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PedAM

Pediatric Disease Annotations & Medicines



   hypertension, essential
  

Disease ID 1869
Disease hypertension, essential
Synonym
eht
essential hypertension
essential hypertension (disorder)
essential hypertension nos
essential hypertension nos (disorder)
essential hypertension unspecified
essential hypertension, nos
hypertension primary
hypertension, arterial, idiopathic
idiopathic hypertension
primary hypertension
primary hypertension, nos
systemic primary arterial hypertension
unspecified essential hypertension
OMIM
DOID
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:14)
NOS3  |  4846  |  CTD_human
ECE1  |  1889  |  CTD_human
GNB3  |  2784  |  CTD_human
NOS2  |  4843  |  CTD_human
AGT  |  183  |  CTD_human
MEX3C  |  51320  |  CTD_human
SELE  |  6401  |  CTD_human
ATP1B1  |  481  |  CTD_human
CYP3A5  |  1577  |  CTD_human
PTGIS  |  5740  |  CLINVAR;CTD_human
AGTR1  |  185  |  CTD_human
ADD1  |  118  |  CTD_human
RGS5  |  8490  |  CTD_human
CBFA2T2  |  9139  |  OMIM
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:10)
1636  |  ACE  |  infer
118  |  ADD1  |  infer
183  |  AGT  |  infer
185  |  AGTR1  |  infer
1585  |  CYP11B2  |  infer
1812  |  DRD1  |  infer
4846  |  NOS3  |  infer
5468  |  PPARG  |  infer
5972  |  REN  |  infer
65125  |  WNK1  |  infer
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1869
Disease hypertension, essential
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:3)
HP:0005117  |  Elevated diastolic blood pressure
HP:0004972  |  Elevated mean arterial pressure
HP:0004421  |  Elevated systolic blood pressure
Text Mined Phenotype(Waiting for update.)
Disease ID 1869
Disease hypertension, essential
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:152)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs104271315554460154ADRB2umls:C0085580BeFreeThis study examined whether the therapeutic efficacy of benazepril on essential hypertension is modified by beta2 adrenergic receptor gene (ADRB2) Arg16Gly (R16G) polymorphism.0.0038001862004ADRB25148826877GA
rs1050136720485192187APLNRumls:C0085580BeFreeTwo polymorphisms [rs3761581 (A/C) and T-1860C] in apelin gene and two [rs7119375 (G/A), rs10501367 (G/A)] in AGTRL1 gene were genotyped using the TaqMan assay among 969 patients diagnosed with essential hypertension and 980 age and sex-matched controls.0.0005428842010APLNR1157238113TC
rs11053646180543314973OLR1umls:C0085580BeFreeThe aim of this study is to explore the association of OLR-1 polymorphism at position 501 in the open reading frame (G501C), with the susceptibility of essential hypertension.0.0002714422008OLR11210160849CG
rs11169571261492142668GDNFumls:C0085580BeFreeThe human ATF1 rs11169571 polymorphism increases essential hypertension risk through modifying miRNA binding.0.0002714422015ATF11250819982TC
rs1116957126149214466ATF1umls:C0085580BeFreeThese results suggested that rs11169571 of ATF1 gene may be associated with EH, and the SNP-modified posttranscriptional gene regulation by miRNAs could be a potentially pathogenetic mechanism of EH.0.0002714422015ATF11250819982TC
rs11221497233828653762KCNJ5umls:C0085580BeFreeFive common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.0.0002714422013KCNJ511128890715GC
rs115569242626635151530ZC3HC1umls:C0085580BeFreeIts major TT-genotype was associated with higher total cholesterol (P = 0.044) and LDL (P = 0.029) compared with the C-allele.We report for the first time that ZC3HC1 rs11556924 was associated with essential hypertension in 50-year-old patients.0.0002714422015ZC3HC17130023656CT
rs11643718179973796559SLC12A3umls:C0085580BeFreeThe roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups.0.0021715352008SLC12A31656899607GA
rs11643718230798456559SLC12A3umls:C0085580BeFreeLack of an association between TSC gene Arg904Gln polymorphisms and essential hypertension risk based on a meta-analysis.0.0021715352012SLC12A31656899607GA
rs11643718179973791188CLCNKBumls:C0085580BeFreeThe roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups.0.0016286512008SLC12A31656899607GA
rs12140311192267007809BSNDumls:C0085580BeFreeWe conclude that CLCNKB-T481S is associated with essential hypertension in males within the Ghanaian population; however, further studies are needed to understand its sex and ethnic segregation as well as to identify cellular factors that account for the divergent functional expression of ClC-Kb-T481S plus barttin in Xenopus oocytes and mammalian cells.0.0005428842009CLCNKB116052230AC,T
rs12140311151482911188CLCNKBumls:C0085580BeFreeIn conclusion, the mutation ClC-Kb(T481S) of the renal epithelial Cl- channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo.0.0016286512004CLCNKB116052230AC,T
rs12140311192267001188CLCNKBumls:C0085580BeFreeCLCNKB-T481S and essential hypertension in a Ghanaian population.0.0016286512009CLCNKB116052230AC,T
rs12708965178855506559SLC12A3umls:C0085580BeFreeOur results show that the substitution of arginine for cysteine at position 919 of TSC increases Na transport function, and provide support for the hypothesis that mutations in renal tubular sodium transporters may contribute to the development of primary hypertension, a polygenic disorder, by increasing renal sodium reabsorption.0.0021715352007SLC12A3;MIR68631656902407CT
rs12731181259775695737PTGFRumls:C0085580BeFreeRare SNP rs12731181 in the miR-590-3p Target Site of the Prostaglandin F2α Receptor Gene Confers Risk for Essential Hypertension in the Han Chinese Population.0.0002714422015PTGFR178536904AG
rs1273118125977569693175MIR590umls:C0085580BeFreeRare SNP rs12731181 in the miR-590-3p Target Site of the Prostaglandin F2α Receptor Gene Confers Risk for Essential Hypertension in the Han Chinese Population.0.0002714422015PTGFR178536904AG
rs13306673216442076559SLC12A3umls:C0085580BeFreeWe suggest that rs7204044 of TSC is a genetic factor for EH in these two ethnicities and that rs13306673 is a genetic factor for EH in the Han population.0.0021715352011SLC12A31656867019CT
rs145986311124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002LPAR21919626578GA
rs14598631112446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002LPAR21919626578GA
rs145986311124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002LPAR21919626578GA
rs145986311124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002LPAR21919626578GA
rs148166461124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002GRK443038428CT
rs148166461201538242868GRK4umls:C0085580BeFreeConstitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups.0.0027144192010GRK443038428CT
rs148166461124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002GRK443038428CT
rs14816646112446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002GRK443038428CT
rs148166461124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002GRK443038428CT
rs1799945256341893077HFEumls:C0085580BeFreeIn conclusion, HFE genetic variant H63D was associated with essential hypertension in Finnish subjects from the TAMRISK cohort confirming a previous GWAS study.0.0002714422015HFE626090951CG
rs1799983248466904846NOS3umls:C0085580BeFreeAbstract Background: The G894T (rs1799983) polymorphism in endothelial nitric oxide synthase (eNOS/NOS3) gene has been implicated in susceptibility to essential hypertension (EH) in some studies, but no clear consensus has been reached in the Chinese population.0.2105102882015NOS37150999023TG
rs1799983185824494846NOS3umls:C0085580BeFreeGender specific association of endothelial nitric oxide synthase gene (Glu298Asp) polymorphism with essential hypertension in a south Indian population.0.2105102882008NOS37150999023TG
rs1799983217933054846NOS3umls:C0085580BeFreeENOS-G894T polymorphism is a risk factor for essential hypertension in China.0.2105102882011NOS37150999023TG
rs1799983181649684846NOS3umls:C0085580BeFreeAssociation between a G894T polymorphism of eNOS gene and essential hypertension in Hani and Yi minority groups of China.0.2105102882008NOS37150999023TG
rs1799983219637264846NOS3umls:C0085580BeFreeEndothelial nitric oxide synthase G894T gene polymorphism and essential hypertension in the Chinese population: a meta-analysis involving 11,248 subjects.0.2105102882011NOS37150999023TG
rs1799983125309314846NOS3umls:C0085580BeFreeEvidence for the involvement of eNOS single nucleotide polymorphisms in the development of essential hypertension is limited, though the eNOS Glu298Asp polymorphism appears to influence the blood pressure response to exercise.0.2105102882003NOS37150999023TG
rs179998324846690342977NANOS3umls:C0085580BeFreeAbstract Background: The G894T (rs1799983) polymorphism in endothelial nitric oxide synthase (eNOS/NOS3) gene has been implicated in susceptibility to essential hypertension (EH) in some studies, but no clear consensus has been reached in the Chinese population.0.0010857672015NOS37150999023TG
rs1799983191329564846NOS3umls:C0085580BeFreeA common variant of the eNOS gene (E298D) is an independent risk factor for left ventricular hypertrophy in human essential hypertension.0.2105102882009NOS37150999023TG
rs1799983236132744846NOS3umls:C0085580BeFreePolymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population.0.2105102882014NOS37150999023TG
rs1799983113948964846NOS3umls:C0085580BeFreeAssociation of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy.0.2105102882001NOS37150999023TG
rs1799983167654684846NOS3umls:C0085580BeFreeAssociation of endothelial nitric oxide synthase gene G894T polymorphism with essential hypertension in an adult Pakistani Pathan population.0.2105102882007NOS37150999023TG
rs1799983235177894846NOS3umls:C0085580BeFreePrevalence of endothelial nitric oxide synthase E298D polymorphism in Turkish patients with essential hypertension.0.2105102882013NOS37150999023TG
rs1799983179357084846NOS3umls:C0085580BeFreeSeveral reports suggested association between the T allele of the endothelial nitric oxide synthase gene polymorphism (eNOS) Glu298Asp (G --> T at nucleotide 894, exon 7) with essential hypertension (EHT).0.2105102882008NOS37150999023TG
rs1799998218466811585CYP11B2umls:C0085580BeFreeRelationship between -344T/C polymorphism in the aldosterone synthase gene and atrial fibrillation in patients with essential hypertension.0.0121389392011CYP11B2;LOC1053757938142918184AG
rs1799998212690611585CYP11B2umls:C0085580BeFreeAfter 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2 -344T/C polymorphism, was associated with systolic blood pressure (SBP) response to HCTZ (P = 0.009) in the Han Chinese population with essential hypertension, with no interaction.0.0121389392011CYP11B2;LOC1053757938142918184AG
rs1799998190937391585CYP11B2umls:C0085580BeFreeAssociation of the -344T/C aldosterone synthase gene variant with essential hypertension.0.0121389392009CYP11B2;LOC1053757938142918184AG
rs1799998250994901585CYP11B2umls:C0085580BeFreeThese data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals.0.0121389392014CYP11B2;LOC1053757938142918184AG
rs1799998161261851585CYP11B2umls:C0085580BeFreeAssociation of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi minorities of China.0.0121389392006CYP11B2;LOC1053757938142918184AG
rs1799998155059311585CYP11B2umls:C0085580BeFreeAssociations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationality in Shandong province.0.0121389392004CYP11B2;LOC1053757938142918184AG
rs1799998232041851585CYP11B2umls:C0085580BeFreeThe -344C/T polymorphism in the CYP11B2 gene is associated with essential hypertension in the Chinese.0.0121389392015CYP11B2;LOC1053757938142918184AG
rs179999896830481585CYP11B2umls:C0085580BeFreeWe examined the role of two variations of the aldosterone synthase gene (CYP11B2), one located in the promoter of the gene, T-344C, the other in the 7th exon, the T4986C (Val/Ala), on plasma levels of renin and aldosterone, blood pressure, and arterial stiffness in subjects with essential hypertension.0.0121389391998CYP11B2;LOC1053757938142918184AG
rs1799998212690611636ACEumls:C0085580BeFreeAfter 6 weeks, the results showed that the ACE I/D polymorphism, not the CYP11B2 -344T/C polymorphism, was associated with systolic blood pressure (SBP) response to HCTZ (P = 0.009) in the Han Chinese population with essential hypertension, with no interaction.0.0332354612011CYP11B2;LOC1053757938142918184AG
rs1799998209665141585CYP11B2umls:C0085580BeFreeAssociation of aldosterone synthase (CYP11B2 C-344T) gene polymorphism & susceptibility to essential hypertension in a south Indian Tamil population.0.0121389392010CYP11B2;LOC1053757938142918184AG
rs179999825099490155ADRB3umls:C0085580BeFreeThese data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals.0.0010857672014CYP11B2;LOC1053757938142918184AG
rs1799998255722381585CYP11B2umls:C0085580BeFreeAldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydrogenase G534A gene polymorphisms and essential hypertension in the population of Odisha, India.0.0121389392015CYP11B2;LOC1053757938142918184AG
rs179999825572238185AGTR1umls:C0085580BeFreeAldosterone synthase C-344T, angiotensin II type 1 receptor A1166C and 11-β hydroxysteroid dehydrogenase G534A gene polymorphisms and essential hypertension in the population of Odisha, India.0.1398588642015CYP11B2;LOC1053757938142918184AG
rs179999896830485972RENumls:C0085580BeFreeWe examined the role of two variations of the aldosterone synthase gene (CYP11B2), one located in the promoter of the gene, T-344C, the other in the 7th exon, the T4986C (Val/Ala), on plasma levels of renin and aldosterone, blood pressure, and arterial stiffness in subjects with essential hypertension.0.026058421998CYP11B2;LOC1053757938142918184AG
rs1799998167142461585CYP11B2umls:C0085580BeFreeIt has been suggested that an aldosterone synthase gene polymorphism (CYP11B2 -344T/C) is predictive of the blood pressure lowering effect of angiotensin II receptor blockers in essential hypertension.0.0121389392006CYP11B2;LOC1053757938142918184AG
rs1799998171431661585CYP11B2umls:C0085580BeFreeAssociation of the C-344T aldosterone synthase gene variant with essential hypertension: a meta-analysis.0.0121389392007CYP11B2;LOC1053757938142918184AG
rs1800780236132744846NOS3umls:C0085580BeFreePolymorphisms of rs1799983 (G>T) and rs1800780 (A>G) of the eNOS gene associated with susceptibility to essential hypertension in the Chinese Hui ethnic population.0.2105102882014NOS37151001791AG
rs1800780242926216899TBX1umls:C0085580BeFreeThese findings suggest that polymorphism of rs1800780 (A→G) in the eNOS gene may be one of the most important genetic factors associated with essential hypertension susceptibility, and those who have haplotype TGA may be at risk to develop essential hypertension.0.0005428842013NOS37151001791AG
rs1800780242926214846NOS3umls:C0085580BeFreeGenetic association of rs1800780 (A→G) polymorphism of the eNOS gene with susceptibility to essential hypertension in a Chinese Han population.0.2105102882013NOS37151001791AG
rs180105812446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002GRK443037423TC
rs1801058201538242868GRK4umls:C0085580BeFreeConstitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups.0.0027144192010GRK443037423TC
rs1801058124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002GRK443037423TC
rs1801058124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002GRK443037423TC
rs1801058124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002GRK443037423TC
rs180125219673943153ADRB1umls:C0085580BeFreeGenetic variants of beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and Arg389Gly) and essential hypertension in a south Indian Tamil population.0.0029858612009ADRB110114044277AG
rs180125323588958153ADRB1umls:C0085580BeFreeβ1-adrenoceptor gene Arg389Gly polymorphism and essential hypertension risk in general population: a meta-analysis.0.0029858612012ADRB110114045297GC
rs180125319673943153ADRB1umls:C0085580BeFreeGenetic variants of beta(1)-adrenoceptor gene polymorphisms (Ser49Gly and Arg389Gly) and essential hypertension in a south Indian Tamil population.0.0029858612009ADRB110114045297GC
rs1801278216776573667IRS1umls:C0085580BeFreeThe aim of this study was to assess the association between G972R polymorphism of the insulin receptor substrate-1 (IRS-1) gene and the circadian variation in blood pressure, insulin sensitivity and salt sensitivity in subjects with uncomplicated, never-treated essential hypertension receiving low-, normal- and high-salt diets.0.0002714422011IRS12226795828CT,G,A
rs180148396734412642GCGRumls:C0085580BeFreePrevious glucagon receptor gene (GCGR) studies have shown a Gly40Ser mutation to be more prevalent in essential hypertension and to affect glucagon binding affinity to its receptor.0.0010857671998GCGR1781809839GA
rs1801483104068172642GCGRumls:C0085580BeFreeGlucagon receptor gene mutation (Gly40Ser) in human essential hypertension: the PEGASE study.0.0010857671999GCGR1781809839GA
rs1801483100904122642GCGRumls:C0085580BeFreeScreening for the Gly40Ser mutation in the glucagon receptor gene among patients with type 2 diabetes or essential hypertension in Taiwan.0.0010857671999GCGR1781809839GA
rs1805087204455734548MTRumls:C0085580BeFreeOur results suggest that the effects of MTHFR C677T and MS A2756G gene polymorphisms may have pivotal roles in the aetiology of EH and BP response to Benazepril treatment.0.0002714422011MTR1236885200AG
rs200657541124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002CYSLTR21348707239TC
rs200657541124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002CYSLTR21348707239TC
rs200657541124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002CYSLTR21348707239TC
rs20065754112446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002CYSLTR21348707239TC
rs207076216636198154ADRB2umls:C0085580BeFreeThree polymorphisms, TH*rs2070762, ADRB2*Q27E, and GRK4*A486V, were found to be independently associated with essential hypertension in Chinese subjects.0.0038001862006TH112165105AG
rs2070762166361982868GRK4umls:C0085580BeFreeThree polymorphisms, TH*rs2070762, ADRB2*Q27E, and GRK4*A486V, were found to be independently associated with essential hypertension in Chinese subjects.0.0027144192006TH112165105AG
rs2304595173186416283S100A12umls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0002714422007KLKB14186251126GA
rs2304595173186414801NFYBumls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0008143262007KLKB14186251126GA
rs2304595173186419001HAP1umls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0005428842007KLKB14186251126GA
rs2604204233828653762KCNJ5umls:C0085580BeFreeFive common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.0.0002714422013KCNJ511128917535GT
rs2960306124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002GRK442988772GA,T
rs2960306124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002GRK442988772GA,T
rs296030612446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002GRK442988772GA,T
rs2960306124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002GRK442988772GA,T
rs2960306201538242868GRK4umls:C0085580BeFreeConstitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups.0.0027144192010GRK442988772GA,T
rs301871651311651752ERAP1umls:C0085580BeFreeIt was reported that the polymorphism Lys528Arg in the human A-LAP gene is associated with essential hypertension.0.0010857672006ERAP1596788627TC
rs359296072389489527347STK39umls:C0085580BeFreeThe association of Serine Threonine Kinase-39 rs35929607 with essential hypertension was as 3.07 (95% confidence interval 2.10-4.49) units/mmHg per G allele (p = 0.001).0.0010857672013STK392168179226AG
rs3740835233828653762KCNJ5umls:C0085580BeFreeFive common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.0.0002714422013KCNJ5;C11orf4511128900463GT
rs376158120485192187APLNRumls:C0085580BeFreeTwo polymorphisms [rs3761581 (A/C) and T-1860C] in apelin gene and two [rs7119375 (G/A), rs10501367 (G/A)] in AGTRL1 gene were genotyped using the TaqMan assay among 969 patients diagnosed with essential hypertension and 980 age and sex-matched controls.0.0005428842010APLNX129655744AC
rs38651134612446468183AGTumls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.1714656732002NANANANANA
rs386511346124464689170LPAR2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0002714422002NANANANANA
rs386511346124464681585CYP11B2umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0121389392002NANANANANA
rs386511346124464682868GRK4umls:C0085580BeFreeTailed allele-specific primers were designed to amplify by PCR six biallelic SNP loci [three in G protein-coupled receptor kinase type 4 (GRK4): R65L, A142V, and A486V; two in angiotensinogen: -6G-->A and M235T; and one in aldosterone synthase: -344C-->T] associated with essential hypertension.0.0027144192002NANANANANA
rs386511346201538242868GRK4umls:C0085580BeFreeConstitutively activated GRK4 gene variants (R65L, A142V, and A486V), by themselves or by their interaction with other genes involved in blood pressure regulation, are associated with essential hypertension and/or salt-sensitive hypertension in several ethnic groups.0.0027144192010NANANANANA
rs386602276177136493356HTR2Aumls:C0085580BeFreeT102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with certain diseases such as non-fatal acute myocardial infarction, essential hypertension, and alcoholism.0.0005428842007NANANANANA
rs386602276113788363356HTR2Aumls:C0085580BeFreeAssociation study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension.0.0005428842001NANANANANA
rs397507444254588334524MTHFRumls:C0085580BeFreeAssociation between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and essential hypertension: a systematic review and meta-analysis.0.0029858612014MTHFR111794407TG
rs4253325173186419001HAP1umls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0005428842007KLKB14186257319GA
rs4253325173186414801NFYBumls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0008143262007KLKB14186257319GA
rs4253325173186416283S100A12umls:C0085580BeFreeCompared with the most common Hap2 CAGC, Hap1 AGAC and Hap3 CGAC, which carry the susceptible rs2304595 G allele and rs4253325 A allele, were found to significantly increase the risk of essential hypertension with adjusted odds ratios equal to 1.37 and 1.17, respectively (P < 0.0001 and 0.028).0.0002714422007KLKB14186257319GA
rs4646994219933641636ACEumls:C0085580BeFreeThe insertion/deletion (I/D) variant (rs4646994) of the angiotensin I-converting enzyme (ACE) gene is one of the most studied polymorphisms in relation to blood pressure and essential hypertension in humans.0.0332354612012NANANANANA
rs4937391233828653762KCNJ5umls:C0085580BeFreeFive common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.0.0002714422013KCNJ511128916399GA
rs4961103713741785DNM2umls:C0085580BeFreeA Gly460Trp variant of the cytoskeletal protein alpha-adducin has recently been implicated in the etiology of essential hypertension (HT) in a study involving southern European whites.0.0010857671999ADD142904980GT
rs496112195119118ADD1umls:C0085580BeFreeThe Gly460Trp polymorphism of the alpha-adducin gene (ADD-1 ) has been examined as a candidate gene for essential hypertension with salt sensitivity in the Caucasian population.0.1300433492002ADD142904980GT
rs496115608390118ADD1umls:C0085580BeFreeAlpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.0.1300433492004ADD142904980GT
rs496122272309118ADD1umls:C0085580BeFreeα-Adducin Gly460Trp gene mutation and essential hypertension in a Chinese population: a meta-analysis including 10,960 subjects.0.1300433492012ADD142904980GT
rs496115326084118ADD1umls:C0085580BeFreeAlpha-adducin Gly460Trp polymorphism and renal hemodynamics in essential hypertension.0.1300433492004ADD142904980GT
rs496120927398118ADD1umls:C0085580BeFreeNo clear consensus has been reached on the alpha-adducin polymorphism (Gly460Trp) and essential hypertension risk.0.1300433492010ADD142904980GT
rs496115187197118ADD1umls:C0085580BeFreeA Gly460Trp variant in the alpha-adducin gene has been associated with essential hypertension.0.1300433492004ADD142904980GT
rs496110673730118ADD1umls:C0085580BeFreeRole of the Gly460Trp polymorphism of the alpha-adducin gene in primary hypertension in Scandinavians.0.1300433492000ADD142904980GT
rs496110912757118ADD1umls:C0085580BeFreeRecent studies have found the tryptophan allele of a glycine to tryptophan polymorphism at position 460 (G460W) of the alpha-adducin protein to be associated with essential hypertension in European populations.0.1300433492000ADD142904980GT
rs496121228790118ADD1umls:C0085580BeFreeα-adducin Gly460Trp polymorphism and essential hypertension risk in Chinese: a meta-analysis.0.1300433492011ADD142904980GT
rs496115493144118ADD1umls:C0085580BeFreeWe concluded that the Trp/Trp genotype of alpha-adducin Gly460Trp was associated with lower serum bilirubin concentrations in this group of Chinese women with essential hypertension.0.1300433492004ADD142904980GT
rs4994250994901585CYP11B2umls:C0085580BeFreeThese data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals.0.0121389392014ADRB3837966280AG
rs499425099490186AGTR2umls:C0085580BeFreeAmong the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs5194 (AGTR2) were found to be significantly different between the EH cases and controls (P < 0.05).0.0013572092014ADRB3837966280AG
rs499410100091155ADRB3umls:C0085580BeFreeAssociation of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.0.0010857671999ADRB3837966280AG
rs499425099490155ADRB3umls:C0085580BeFreeThese data demonstrated that ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals.0.0010857672014ADRB3837966280AG
rs519425099490186AGTR2umls:C0085580BeFreeAmong the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs5194 (AGTR2) were found to be significantly different between the EH cases and controls (P < 0.05).0.0013572092014AGTR2X116173577AG
rs5443170660842784GNB3umls:C0085580BeFreeInteraction between GNB3 C825T and ACE I/D polymorphisms in essential hypertension in Koreans.0.1276003722007GNB3;CDCA3126845711CT
rs5443127300302784GNB3umls:C0085580BeFreeThe 825T-allele of the C825T polymorphism in GNB3, the gene for the G protein beta3 subunit, has been reported to be associated with essential hypertension and obesity.0.1276003722003GNB3;CDCA3126845711CT
rs5443170660841636ACEumls:C0085580BeFreeInteraction between GNB3 C825T and ACE I/D polymorphisms in essential hypertension in Koreans.0.0332354612007GNB3;CDCA3126845711CT
rs5443150421131636ACEumls:C0085580BeFreeGNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate.0.0332354612004GNB3;CDCA3126845711CT
rs5443121133972784GNB3umls:C0085580BeFreeRecently, a C825T polymorphism in the gene coding for the beta3 subunit of G proteins (GNB3) has been described in cells from patients with essential hypertension and enhanced Na+/H+ exchange activity.0.1276003722002GNB3;CDCA3126845711CT
rs5443163142022784GNB3umls:C0085580BeFreeGNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prevalence of essential hypertension in males.0.1276003722006GNB3;CDCA3126845711CT
rs5443172789602784GNB3umls:C0085580BeFreeThe GNB3 C825T polymorphism and essential hypertension: a meta-analysis of 34 studies including 14,094 cases and 17,760 controls.0.1276003722007GNB3;CDCA3126845711CT
rs5443103348072784GNB3umls:C0085580BeFreeWe conclude that the 825C/T polymorphism of the GNB3 gene did not contribute in any important way to the risk of essential hypertension or MI in these studies.0.1276003721999GNB3;CDCA3126845711CT
rs5443227149182784GNB3umls:C0085580BeFreeAssociation between the G-protein β3 subunit C825T polymorphism with essential hypertension: a meta-analysis in Han Chinese population.0.1276003722012GNB3;CDCA3126845711CT
rs5443215322952784GNB3umls:C0085580BeFreeC825T polymorphism of the G-protein β3 subunit and its association with essential hypertension in Uzbek males.0.1276003722011GNB3;CDCA3126845711CT
rs5443150421132784GNB3umls:C0085580BeFreeGNB3 gene C825T and ACE gene I/D polymorphisms in essential hypertension in a Kazakh genetic isolate.0.1276003722004GNB3;CDCA3126845711CT
rs5443125309352784GNB3umls:C0085580BeFreeThe G-protein beta3 subunit (GNB3) C825T polymorphism was detected through a classical candidate gene approach using cell lines with enhanced G-protein activation from patients with essential hypertension.0.1276003722003GNB3;CDCA3126845711CT
rs5443163142021636ACEumls:C0085580BeFreeGNB3 C825T and ACE I/D polymorphisms on the sodium-proton exchanger and the prevalence of essential hypertension in males.0.0332354612006GNB3;CDCA3126845711CT
rs5443112303662784GNB3umls:C0085580BeFreeThus, the C825T polymorphism of the G protein beta(3)-subunit may help identify patients with essential hypertension who are more responsive to diuretic therapy.0.1276003722001GNB3;CDCA3126845711CT
rs5443177859252784GNB3umls:C0085580BeFreeCase-control association analysis showed a significant association between EH and both the ALDH2 (Lys487Glu) and GNB3 (C825T) variants.0.1276003722007GNB3;CDCA3126845711CT
rs5443214737342784GNB3umls:C0085580BeFreeThe role of G protein β3 subunit polymorphisms C825T, C1429T, and G5177A in Turkish subjects with essential hypertension.0.1276003722011GNB3;CDCA3126845711CT
rs5443152004402784GNB3umls:C0085580BeFreeThe T allele of the G protein beta3 subunit (GNB3) C825T polymorphism has been associated with increased signal transduction, increased activity of the kidney Na+/H+ exchanger, and also with late-onset essential hypertension.0.1276003722004GNB3;CDCA3126845711CT
rs5516206137813816KLK1umls:C0085580BeFreeThis study suggests that rs5516 in the KLK1 gene may be involved in the development of essential hypertension and in the regulation of SBP-lowering response to irbesartan in Chinese hypertensives.0.0008143262011KLK11950820217CG
rs5522240594944306NR3C2umls:C0085580BeFreeNR3C2 rs5522 affects blood pressure response to enalapril treatment and may serve as a useful pharmacogenomic marker of antihypertensive response to enalapril in essential hypertension patients.0.0008143262015NR3C24148436323CT
rs6313113788363356HTR2Aumls:C0085580BeFreeAssociation study of the 5-HT(2A) receptor gene polymorphism, T102C and essential hypertension.0.0005428842001HTR2A1346895805GA
rs6313177136493356HTR2Aumls:C0085580BeFreeT102C polymorphism of the serotonin receptor 2A gene (5-HT2A) has been shown to be associated with certain diseases such as non-fatal acute myocardial infarction, essential hypertension, and alcoholism.0.0005428842007HTR2A1346895805GA
rs6590357233828653762KCNJ5umls:C0085580BeFreeFive common single nucleotide polymorphisms (SNPs) of the KCNJ5 gene (rs6590357, rs4937391, rs3740835, rs2604204, and rs11221497) were detected in patients with sporadic PA (n = 235) and essential hypertension (EH; n=913) by the TaqMan polymerase chain reaction method.0.0002714422013KCNJ5;C11orf4511128911444TC
rs6682082255107695972RENumls:C0085580BeFreeA polymorphism of the renin gene rs6682082 is associated with essential hypertension risk and blood pressure levels in Korean women.0.026058422015REN1204167813CT
rs67125403981217ALDH2umls:C0085580BeFreeMeta-analysis of association between ALDH2 rs671 polymorphism and essential hypertension in Asian populations.0.0010857672014ALDH212111803962GA
rs67121476199217ALDH2umls:C0085580BeFreeAcetaldehyde dehydrogenase 2 SNP rs671 and susceptibility to essential hypertension in Mongolians: a case control study.0.0010857672011ALDH212111803962GA
rs69921312059183AGTumls:C0085580BeFreeAssociation between the M268T polymorphism in the angiotensinogen gene and essential hypertension in a South Indian population.0.1714656732011AGT1230710048AG
rs7104980226792784801NFYBumls:C0085580BeFreeThe present results indicated PRCP rs7104980 can be considered as a marker for EH and Hap3 GAGCACTAACA (PRCP) and Hap16 TTTA (CMA1) might be associated with EH in Chinese Han population.0.0008143262014PRCP1182864153CG
rs711937520485192187APLNRumls:C0085580BeFreeTwo polymorphisms [rs3761581 (A/C) and T-1860C] in apelin gene and two [rs7119375 (G/A), rs10501367 (G/A)] in AGTRL1 gene were genotyped using the TaqMan assay among 969 patients diagnosed with essential hypertension and 980 age and sex-matched controls.0.0005428842010APLNR1157238490AG
rs7204044216442076559SLC12A3umls:C0085580BeFreeWe suggest that rs7204044 of TSC is a genetic factor for EH in these two ethnicities and that rs13306673 is a genetic factor for EH in the Han population.0.0021715352011SLC12A31656908797AG
rs72811418176209581535CYBAumls:C0085580BeFreeA novel CYBA variant, the -675A/T polymorphism, is associated with essential hypertension.0.0008143262007CYBA;MVD1688651688AT
rs9607267198868514801NFYBumls:C0085580BeFreeThe results indicated that the rs9607267 of the HMOX1 gene was significantly associated with essential hypertension (EH) and the Hap3(T-C-G) of the HMOX1 gene was also significantly associated with the risk of EH.0.0008143262009HMOX12235385214TC
rs9607267198868513162HMOX1umls:C0085580BeFreeThe results indicated that the rs9607267 of the HMOX1 gene was significantly associated with essential hypertension (EH) and the Hap3(T-C-G) of the HMOX1 gene was also significantly associated with the risk of EH.0.0008143262009HMOX12235385214TC
GWASdb Annotation(Total Genotypes:4)
Chr Pos SNP_Id RefGene EnsemblGene ENCODE_Factor ENCODE_TFBS Chromosome_interaction GTEx_eQTL SNP_TFBS_affinity_GWAS3D SNP_miRNA_target_affinity_PolymiRTS SNP_splicing_effect_Skippy SNP_splicing_effect_MutPred_Splice SNP_ns_protein_effect_dbNSFP SNP_syn_effect_Silva SNP_phosphorylation_effect_PhosSNP PhastCons_score PhyloP_score GERP++_RS Segway_state Ancestral_allele ESP_AF ESP_AFR ESP_AFR ESP_EUR TG_ASN TG_AMR TG_AFR TG_EUR Type Consequence bStatistic EncH3K27Ac EncH3K4Me1 EncH3K4Me3 EncNucleo OMIM Clinvar
2032080115rs6059349NM_001032999,CBFA2T2ENST00000471007,ENSG00000078699ENST00000375279,ENSG00000078699ENST00000342704,ENSG00000078699ENST00000417366,ENSG00000078699NANAchr20,32080001,32090000,chr20,32100001,32110000,34,Hi-Cchr20,32080001,32090000,chr20,32260001,32270000,8,Hi-Cchr20,32080001,32090000,chr12,130770001,130780000,7,Hi-CNALM42,2.786LM100,3.6523LM100,4.091LM214,5.5269CREB1,1.4978NANANANANANA0.001-0.525-0.589R4GNANANANANANANANA
2032128889rs209665NM_001032999,CBFA2T2ENST00000471007,ENSG00000078699ENST00000375279,ENSG00000078699ENST00000342704,ENSG00000078699ENST00000417366,ENSG00000078699NANAchr20,32120001,32130000,chr20,32040001,32050000,100,Hi-Cchr20,32120001,32130000,chr10,23130001,23140000,4,Hi-Cchr20,32120001,32130000,chr14,104000001,104010000,5,Hi-Cchr20,32120001,32130000,chr20,42260001,42270000,8,Hi-Cchr20,32120001,32130000,chr10,103300001,103310000,9,Hi-CNALM4,4.6759LM24,9.7787LM28,3.8749LM62,2.0812LM89,6.7185NANANANANANA0.5471.1531.5R2GNANANANANANA
2032140287rs209677NM_001032999,CBFA2T2ENST00000471007,ENSG00000078699ENST00000375279,ENSG00000078699ENST00000342704,ENSG00000078699ENST00000417366,ENSG00000078699NANAchr20,32140001,32150000,chr20,49410001,49420000,4,Hi-CNABas1-primary,2.0113Hdx_3845,6.9039Nrg1-primary,2.1338Rph1-primary,2.5052Rph1-primary,2.6732NANANANANANA0.030-0.166-0.688GE0CNANANANANANANANATranscriptINTRONIC
2032227729rs17124861NM_001032999,CBFA2T2NM_001039709,CBFA2T2NM_005093,CBFA2T2ENST00000375279,ENSG00000078699ENST00000342704,ENSG00000078699ENST00000397800,ENSG00000078699ENST00000346541,ENSG00000078699ENST00000492345,ENSG00000078699ENST00000397803,ENSG00000078699ENST00000359606,ENSG00000078699NANANANALM34,2.579LM131,1.368LM145,1.5893LM151,2.0575LM164,2.898NANANANANANA0.000-2.168-4.61TF1TNANANANANA
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:1)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0085580amlodipineD01731188150-42-9hypertension, essentialMESH:C562386therapeutic25031906
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)