eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| monoclonal gammopathy of uncertain significance | ||||
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:4) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387907272 | 23321251 | 4615 | MYD88 | umls:C0026470 | BeFree | Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts). | 0.000814326 | 2013 | MYD88 | 3 | 38141150 | T | C |
| rs387907272 | 24509637 | 4615 | MYD88 | umls:C0026470 | BeFree | Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macroglobulinemia and IgM monoclonal gammopathy of undetermined significance. | 0.000814326 | 2014 | MYD88 | 3 | 38141150 | T | C |
| rs387907272 | 23321251 | 10584 | COLEC10 | umls:C0026470 | BeFree | Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts). | 0.000271442 | 2013 | MYD88 | 3 | 38141150 | T | C |
| rs387907272 | 23321251 | 160364 | CLEC12A | umls:C0026470 | BeFree | Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patients and was either absent or rarely expressed in samples from splenic marginal zone lymphoma (2/20; 10%), CLL (1/26; 4%), multiple myeloma (including IgM cases, 0/14), and immunoglobulin G MGUS (0/9) patients as well as healthy donors (0/40; P < 1.5 × 10(-5) for WM vs other cohorts). | 0.000271442 | 2013 | MYD88 | 3 | 38141150 | T | C |
GWASdb Annotation(Total Genotypes:2) | |||||||||||||||||||||||||||||||||||||
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| 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 |
| 17 | 28576076 | rs1050565 | NM_000386,BLMH | ENST00000394819,ENSG00000108578 | ENST00000261714,ENSG00000108578 | NA | NA | chr17,28570001,28580000,chr17,28480001,28490000,29,Hi-C | chr17,28570001,28580000,chrX,3720001,3730000,4,Hi-C | NA | LM2,1.3202 | LM50,4.1975 | LM81,1.6069 | LM97,8.5415 | LM115,2.8432 | NA | NA | NA | BLMH,T,G,I,L,0,0.99,0.982888,0.000566 | BLMH,T,C,I,V,0,0,0.982888,0.000225 | BLMH,T,A,I,F,0,1,0.982888,0.010081 | NA | NA | 0.667 | 0.743 | 1.54 | GE1 | T | NA | NA | NA | NA | NA | NA | NA | NA | CodingTranscript |
| 17 | 28579270 | rs16965645 | NM_000386,BLMH | ENST00000394819,ENSG00000108578 | ENST00000261714,ENSG00000108578 | NA | NA | chr17,28570001,28580000,chr17,28480001,28490000,29,Hi-C | chr17,28570001,28580000,chrX,3720001,3730000,4,Hi-C | NA | LM4,7.7728 | LM15,1.3006 | LM34,2.0189 | LM94,2.8614 | LM160,1.7742 | NA | NA | NA | NA | NA | NA | 0.058 | 0.230 | 1.03 | GE1 | A | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM | 253 |
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.) |
| Disease ID | 456 |
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| Disease | monoclonal gammopathy of uncertain significance |
| Case | (Waiting for update.) |