PedAM
Pediatric Disease Annotations & Medicines
| cardiomyopathy, familial hypertrophic | ||||
| Disease ID | 1890 |
|---|---|
| Disease | cardiomyopathy, familial hypertrophic |
| Definition | Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. |
| Synonym | asymmetric septal hypertrophy, familial cardiomyopathies, familial hypertrophic cardiomyopathy, hypertrophic, familial cardiomyopathy, hypertrophic, familial [disease/finding] familial hypertrophic cardiomyopathies familial hypertrophic cardiomyopathy familial ventricular hypertrophies familial ventricular hypertrophy hereditary ventricular hypertrophies hereditary ventricular hypertrophy hypertrophic cardiomyopathies, familial hypertrophic cardiomyopathy, familial hypertrophic familial cardiomyopathy hypertrophies, hereditary ventricular hypertrophy, familial ventricular hypertrophy, hereditary ventricular primary familial hypertrophic cardiomyopathy primary familial hypertrophic cardiomyopathy (disorder) ventricular hypertrophies, familial ventricular hypertrophies, hereditary ventricular hypertrophy, familial ventricular hypertrophy, hereditary |
| OMIM | |
| DOID | |
| UMLS | C0949658 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:21) TPM1 | 7168 | CLINVAR;CTD_human DES | 1674 | CLINVAR CRYAB | 1410 | CLINVAR ANKRD1 | 27063 | CLINVAR LAMP2 | 3920 | CLINVAR TNNI3 | 7137 | CLINVAR;CTD_human MYH7 | 4625 | CLINVAR;CTD_human MYH6 | 4624 | CLINVAR;CTD_human TNNT2 | 7139 | CLINVAR;CTD_human JPH2 | 57158 | CLINVAR KCNE2 | 9992 | CLINVAR ACTN2 | 88 | CLINVAR SCN5A | 6331 | CLINVAR NEXN | 91624 | CLINVAR CSRP3 | 8048 | CLINVAR MYBPC3 | 4607 | CLINVAR;CTD_human MYL3 | 4634 | CLINVAR MYL2 | 4633 | CLINVAR;CTD_human GPD1L | 23171 | CLINVAR CAV3 | 859 | CLINVAR DSG2 | 1829 | CLINVAR |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1890 |
|---|---|
| Disease | cardiomyopathy, familial hypertrophic |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1890 |
|---|---|
| Disease | cardiomyopathy, familial hypertrophic |
| 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:178) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894363 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110919160 | C | T |
| rs104894369 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110914287 | C | T |
| rs104894502 | 22794249 | 7168 | TPM1 | umls:C0949658 | BeFree | Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial hypertrophic cardiomyopathy (FHC). | 0.247610304 | 2012 | TPM1 | 15 | 63060915 | A | G,T |
| rs104894502 | 22958892 | 7168 | TPM1 | umls:C0949658 | BeFree | The familial hypertrophic cardiomyopathy mutation αTm E180G enhances Ca(2+)-sensitivity in functional assays. | 0.247610304 | 2012 | TPM1 | 15 | 63060915 | A | G,T |
| rs104894503 | 22794249 | 7168 | TPM1 | umls:C0949658 | BeFree | Cardiac α-tropomyosin (Tm) single-site mutations D175N and E180G cause familial hypertrophic cardiomyopathy (FHC). | 0.247610304 | 2012 | TPM1 | 15 | 63060899 | G | A |
| rs104894503 | 9060904 | 7168 | TPM1 | umls:C0949658 | BeFree | We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. | 0.247610304 | 1997 | TPM1 | 15 | 63060899 | G | A |
| rs104894503 | 15031138 | 7168 | TPM1 | umls:C0949658 | BeFree | The results allow us to propose a hypothesis of the pathogenetic changes caused by alpha-tropomyosin mutation Asp(175)Asn in familial hypertrophic cardiomyopathy on the basis of changes in Ca(2+) handling as a sensitive mechanism to compensate for alterations in sarcomeric structure. | 0.247610304 | 2004 | TPM1 | 15 | 63060899 | G | A |
| rs104894503 | NA | 7168 | TPM1 | umls:C0949658 | CLINVAR | NA | 0.247610304 | NA | TPM1 | 15 | 63060899 | G | A |
| rs104894724 | 14575308 | 7137 | TNNI3 | umls:C0949658 | BeFree | Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and K206Q), alone or in the troponin complex (i.e. | 0.256521735 | 2003 | TNNI3 | 19 | 55154146 | G | C,A |
| rs104894724 | 24418317 | 7137 | TNNI3 | umls:C0949658 | BeFree | Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-terminus of cardiac troponin T: Effects of familial hypertrophic cardiomyopathy mutations cTnI R145G and cTnT R278C, alone and in combination, on filament sliding. | 0.256521735 | 2013 | TNNI3 | 19 | 55154146 | G | C,A |
| rs104894724 | 10806205 | 7137 | TNNI3 | umls:C0949658 | BeFree | We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. | 0.256521735 | 2000 | TNNI3 | 19 | 55154146 | G | C,A |
| rs104894725 | 14596793 | 1769 | DNAH8 | umls:C0949658 | BeFree | We have studied the influence of phosphorylation of human wild-type cTnI and of two mutant cTnI (G203S and K206Q) causing familial hypertrophic cardiomyopathy (fHCM) on the secondary structure by circular dichroism spectroscopy and on the Ca2+ regulation of actin-myosin interaction using actoS1-ATPase activity and in vitro motility assays. | 0.001628651 | 2003 | TNNI3 | 19 | 55151851 | T | G,C |
| rs104894725 | 14596793 | 7137 | TNNI3 | umls:C0949658 | BeFree | Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways. | 0.256521735 | 2003 | TNNI3 | 19 | 55151851 | T | G,C |
| rs104894725 | 14575308 | 7137 | TNNI3 | umls:C0949658 | BeFree | Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and K206Q), alone or in the troponin complex (i.e. | 0.256521735 | 2003 | TNNI3 | 19 | 55151851 | T | G,C |
| rs104894727 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55151881 | C | T,A |
| rs104894729 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55151892 | C | T,G,A |
| rs112738974 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47338519 | C | A,G,T |
| rs113358486 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333555 | A | C,G,T |
| rs121434467 | NA | 4565 | TRNI | umls:C0949658 | CLINVAR | NA | 0.12 | NA | NA | MT | 4295 | A | G |
| rs121434470 | NA | 4565 | TRNI | umls:C0949658 | CLINVAR | NA | 0.12 | NA | NA | MT | 4300 | A | G |
| rs121434475 | NA | 4563 | TRNG | umls:C0949658 | CLINVAR | NA | 0.12 | NA | NA | MT | 9997 | T | C |
| rs121909280 | NA | 859 | CAV3 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | CAV3;SSUH2 | 3 | 8745602 | C | G |
| rs121909374 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342578 | C | G |
| rs121913013 | NA | 1829 | DSG2 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | DSG2 | 18 | 31519887 | G | A |
| rs121913624 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429278 | C | T,A |
| rs121913625 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429005 | G | T,A |
| rs121913626 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427723 | C | T,G |
| rs121913627 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427657 | C | T |
| rs121913628 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424059 | C | T |
| rs121913630 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425814 | G | C,A |
| rs121913631 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424107 | G | C |
| rs121913632 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425760 | C | T,G,A |
| rs121913633 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23431447 | C | T |
| rs121913637 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425971 | G | A |
| rs121913638 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425980 | C | T |
| rs121913641 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425970 | C | T |
| rs121913644 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425798 | G | A |
| rs121964857 | NA | 7139 | TNNT2 | umls:C0949658 | CLINVAR | NA | 0.255521844 | NA | TNNT2 | 1 | 201359245 | G | A |
| rs137854602 | NA | 6331 | SCN5A | umls:C0949658 | CLINVAR | NA | 0.12 | NA | SCN5A | 3 | 38555664 | G | A |
| rs138049878 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424840 | G | A |
| rs138218523 | NA | 8048 | CSRP3 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | CSRP3 | 11 | 19186331 | C | T |
| rs139222507 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MHRT | 14 | 23415249 | G | T |
| rs139794067 | NA | 4634 | MYL3 | umls:C0949658 | CLINVAR | NA | 0.12272435 | NA | MYL3 | 3 | 46860813 | G | A,C,T |
| rs141121678 | NA | 7139 | TNNT2 | umls:C0949658 | CLINVAR | NA | 0.255521844 | NA | TNNT2 | 1 | 201359220 | C | A,T |
| rs141764279 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MIR208B | 14 | 23418398 | G | A,T |
| rs143139258 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110913097 | T | G |
| rs143852164 | NA | 4634 | MYL3 | umls:C0949658 | CLINVAR | NA | 0.12272435 | NA | MYL3 | 3 | 46859496 | G | A |
| rs145387010 | NA | 27063 | ANKRD1 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | ANKRD1 | 10 | 90918950 | G | A |
| rs145677314 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425346 | G | A |
| rs146245480 | NA | 91624 | NEXN | umls:C0949658 | CLINVAR | NA | 0.12 | NA | NEXN | 1 | 77926863 | C | A,T |
| rs150516929 | NA | 1410 | CRYAB | umls:C0949658 | CLINVAR | NA | 0.12 | NA | CRYAB | 11 | 111908832 | C | T |
| rs150634297 | NA | 4634 | MYL3 | umls:C0949658 | CLINVAR | NA | 0.12272435 | NA | MYL3 | 3 | 46860748 | C | T |
| rs186964570 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23433656 | G | A |
| rs187830361 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337729 | A | C,G |
| rs193068692 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47350041 | G | A |
| rs193922377 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47343051 | C | T |
| rs193922379 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337456 | A | T |
| rs193922383 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47332896 | G | T,A |
| rs193922384 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47332126 | - | GCAGACATAGATGCCCCC |
| rs193922385 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47349899 | G | A |
| rs193922386 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47346365 | G | T,A |
| rs193922387 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424794 | TTC | - |
| rs193922388 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23420234 | C | T |
| rs193922391 | NA | 4634 | MYL3 | umls:C0949658 | CLINVAR | NA | 0.12272435 | NA | MYL3 | 3 | 46858413 | T | C |
| rs193922409 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55151905 | C | T,A |
| rs193922410 | NA | 7168 | TPM1 | umls:C0949658 | CLINVAR | NA | 0.247610304 | NA | TPM1 | 15 | 63062248 | A | G |
| rs193922649 | NA | 3920 | LAMP2 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | LAMP2 | X | 120449063 | T | - |
| rs199474808 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110915743 | G | T,A |
| rs199476312 | NA | 7168 | TPM1 | umls:C0949658 | CLINVAR | NA | 0.247610304 | NA | TPM1 | 15 | 63060891 | T | C |
| rs199476316 | NA | 7168 | TPM1 | umls:C0949658 | CLINVAR | NA | 0.247610304 | NA | TPM1 | 15 | 63062219 | C | T |
| rs199728019 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47341995 | C | T |
| rs199865688 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337496 | C | T |
| rs200248944 | NA | 88 | ACTN2 | umls:C0949658 | CLINVAR | NA | 0.120271442 | NA | ACTN2 | 1 | 236747744 | C | T |
| rs200303340 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MHRT | 14 | 23415421 | C | T |
| rs200411226 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342718 | C | T |
| rs200625851 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342734 | C | T |
| rs200754249 | NA | 7139 | TNNT2 | umls:C0949658 | CLINVAR | NA | 0.255521844 | NA | TNNT2 | 1 | 201368212 | G | A,T |
| rs200939753 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MHRT | 14 | 23415225 | C | T |
| rs201098973 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47349782 | C | T |
| rs201278114 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47352635 | C | G |
| rs201895208 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MIR208B;MHRT | 14 | 23417616 | G | T |
| rs202139499 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47349804 | C | G |
| rs202141173 | 17703256 | 4625 | MYH7 | umls:C0949658 | BeFree | A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. | 0.252244679 | 2007 | MYH7 | 14 | 23424842 | C | T |
| rs267606904 | NA | 4624 | MYH6 | umls:C0949658 | CLINVAR | NA | 0.24 | NA | MYH6 | 14 | 23392968 | C | G |
| rs267606908 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424112 | T | C |
| rs267606911 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23428587 | C | A |
| rs267607127 | 14575308 | 7137 | TNNI3 | umls:C0949658 | BeFree | Purified recombinant wild-type cTnI and three of its fHCM-related missense mutants (R145G, G203S and K206Q), alone or in the troponin complex (i.e. | 0.256521735 | 2003 | TNNI3 | 19 | 55151860 | C | T |
| rs267607127 | 14596793 | 1769 | DNAH8 | umls:C0949658 | BeFree | We have studied the influence of phosphorylation of human wild-type cTnI and of two mutant cTnI (G203S and K206Q) causing familial hypertrophic cardiomyopathy (fHCM) on the secondary structure by circular dichroism spectroscopy and on the Ca2+ regulation of actin-myosin interaction using actoS1-ATPase activity and in vitro motility assays. | 0.001628651 | 2003 | TNNI3 | 19 | 55151860 | C | T |
| rs267607127 | 14596793 | 7137 | TNNI3 | umls:C0949658 | BeFree | Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways. | 0.256521735 | 2003 | TNNI3 | 19 | 55151860 | C | T |
| rs267607490 | NA | 1674 | DES | umls:C0949658 | CLINVAR | NA | 0.12 | NA | DES | 2 | 219425734 | C | T |
| rs3218713 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23431468 | C | T |
| rs3218713 | 24298987 | 4625 | MYH7 | umls:C0949658 | BeFree | Whole exome sequencing analysis revealed a R249Q-MYH7 mutation associated previously with familial hypertrophic cardiomyopathy, sudden death, and impaired β-myosin heavy chain (MHC-β) actin-translocating and actin-activated ATPase (adenosine triphosphatase) activity. | 0.252244679 | 2014 | MYH7 | 14 | 23431468 | C | T |
| rs3218714 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429279 | G | A |
| rs3218716 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425316 | C | T |
| rs36211715 | 17703256 | 4625 | MYH7 | umls:C0949658 | BeFree | A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family. | 0.252244679 | 2007 | MYH7 | 14 | 23424839 | C | T |
| rs36211715 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424839 | C | T |
| rs36211723 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47338520 | C | T |
| rs367546859 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23420993 | C | T |
| rs368121566 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47347480 | C | A,T |
| rs368180702 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333698 | C | T |
| rs368861241 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55154095 | G | A |
| rs368861241 | 10806205 | 7137 | TNNI3 | umls:C0949658 | BeFree | We have analyzed the functional effects of two HCM mutations (R145G and R162W) using purified recombinant cTnI. | 0.256521735 | 2000 | TNNI3 | 19 | 55154095 | G | A |
| rs369790992 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47338559 | C | T |
| rs371061770 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333610 | G | A |
| rs371401403 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47335996 | G | A,T |
| rs371488302 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337792 | C | T |
| rs371564200 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47341207 | C | G,T |
| rs371898076 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23426833 | C | T |
| rs372381770 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MHRT | 14 | 23414101 | G | A |
| rs373946195 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47350058 | A | G |
| rs375347534 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342750 | C | A,T |
| rs375471260 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47351308 | C | T |
| rs375667565 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110913124 | G | A |
| rs375675796 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337564 | C | A,T |
| rs375774648 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47347666 | C | G |
| rs375882485 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342698 | G | A |
| rs376395543 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47351507 | T | C |
| rs376504548 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47335074 | G | A |
| rs376754645 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425345 | C | T |
| rs376897125 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23430601 | C | T |
| rs397515884 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47346258 | C | T |
| rs397515910 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342627 | A | C |
| rs397515937 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47339792 | T | C |
| rs397515963 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337729 | - | C |
| rs397515966 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337502 | - | A |
| rs397516005 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333566 | G | A |
| rs397516014 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333226 | - | C |
| rs397516074 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47348424 | C | T |
| rs397516097 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429089 | C | T |
| rs397516098 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429044 | C | T |
| rs397516101 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429004 | C | T |
| rs397516115 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427865 | C | T,A |
| rs397516121 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427716 | A | G |
| rs397516127 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23426834 | G | A |
| rs397516132 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23426021 | A | T |
| rs397516142 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425357 | C | T,G |
| rs397516152 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424946 | G | C |
| rs397516155 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424907 | CTT | - |
| rs397516156 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424902 | A | G |
| rs397516166 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424085 | A | G |
| rs397516171 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424041 | C | T,G |
| rs397516172 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424036 | CTC | - |
| rs397516178 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23422291 | C | T,A |
| rs397516202 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7;MIR208B | 14 | 23418244 | C | T |
| rs397516209 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23432713 | C | T |
| rs397516212 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23432703 | C | A |
| rs397516264 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23431602 | C | T |
| rs397516269 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23431426 | A | G |
| rs397516357 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55151910 | C | T |
| rs41261344 | NA | 6331 | SCN5A | umls:C0949658 | CLINVAR | NA | 0.12 | NA | SCN5A | 3 | 38575385 | C | T |
| rs587782951 | NA | 57158 | JPH2 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | JPH2 | 20 | 44160305 | G | T |
| rs587782957 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47342693 | GAACC | - |
| rs587782958 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333552 | C | T |
| rs587782962 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23422267 | C | T |
| rs587782965 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110914221 | G | T |
| rs72546668 | NA | 859 | CAV3 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | CAV3;SSUH2 | 3 | 8745644 | C | A,T |
| rs72552293 | NA | 23171 | GPD1L | umls:C0949658 | CLINVAR | NA | 0.12 | NA | GPD1L | 3 | 32140231 | A | G |
| rs727502886 | NA | 88 | ACTN2 | umls:C0949658 | CLINVAR | NA | 0.120271442 | NA | ACTN2 | 1 | 236719007 | G | A |
| rs727503260 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425403 | C | T,G |
| rs727503269 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429329 | T | C |
| rs727503501 | NA | 7137 | TNNI3 | umls:C0949658 | CLINVAR | NA | 0.256521735 | NA | TNNI3 | 19 | 55154053 | C | T |
| rs727504239 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427242 | T | C |
| rs727504240 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23426046 | G | A |
| rs727504241 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23425783 | C | T,A |
| rs727504267 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23432504 | T | C |
| rs727504274 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23420225 | C | T |
| rs727504288 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47337550 | TCT | - |
| rs727504409 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23430997 | G | C |
| rs727505132 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23424921 | C | T |
| rs730880138 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47334008 | G | A |
| rs730880140 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47333297 | T | C |
| rs730880142 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47332086 | C | T |
| rs730880143 | NA | 4607 | MYBPC3 | umls:C0949658 | CLINVAR | NA | 0.247448483 | NA | MYBPC3 | 11 | 47343625 | C | T |
| rs730880159 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23429031 | T | G,C |
| rs730880160 | NA | 4625 | MYH7 | umls:C0949658 | CLINVAR | NA | 0.252244679 | NA | MYH7 | 14 | 23427846 | C | T |
| rs730880162 | NA | 4634 | MYL3 | umls:C0949658 | CLINVAR | NA | 0.12272435 | NA | MYL3 | 3 | 46859509 | C | T,A |
| rs74315449 | NA | 9992 | KCNE2 | umls:C0949658 | CLINVAR | NA | 0.12 | NA | KCNE2;LOC105372791 | 21 | 34370557 | C | T |
| rs786205430 | NA | 4633 | MYL2 | umls:C0949658 | CLINVAR | NA | 0.242995792 | NA | MYL2 | 12 | 110911152 | G | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |