MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864309722
rs864309722
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C4225221
Disease:
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs864309723
rs864309723
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C4225221
Disease:
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs864309724
rs864309724
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C4225221
Disease:
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs16853637
rs16853637
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		A 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs76272256
rs76272256
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs76272256
rs76272256
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C2931822
Disease:
Nasopharyngeal carcinoma 		0.740 GeneticVariation GWASDB A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
dbSNP: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0027439
Disease:
Nasopharyngeal Neoplasms 		0.700 GeneticVariation GWASCAT A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. 20512145 2010
dbSNP: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0027439
Disease:
Nasopharyngeal Neoplasms 		0.700 GeneticVariation GWASCAT A GWAS Meta-analysis and Replication Study Identifies a Novel Locus within CLPTM1L/TERT Associated with Nasopharyngeal Carcinoma in Individuals of Chinese Ancestry. 26545403 2016
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0428883
Disease:
Diastolic blood pressure 		0.700 GeneticVariation GWASCAT A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure. 29455858 2018
dbSNP: rs556915505
rs556915505
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0019623
Disease:
Malignant histiocytosis 		0.010 GeneticVariation BEFREE A subset of mice (30%) developed malignant histiocytosis similar to mice that received mutationally activated NRas(G12D)-expressing bone marrow. 22847614 2013
dbSNP: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C2931822
Disease:
Nasopharyngeal carcinoma 		0.740 GeneticVariation BEFREE Among the 15 SNPs detected in the meta-analysis, miR-146a (rs2910164, C>G), HCG9 (rs3869062, A>G), HCG9 (rs16896923, T>C), MMP2 (rs243865, C>T), GABBR1 (rs2076483, T>C), and TP53 (rs1042522, C>G) were associated with decreased susceptibility to NPC, while GSTM1 (+/DEL), IL-10 (rs1800896, A>G), MDM2 (rs2279744, T>G), MDS1-EVI1 (rs6774494, G>A), XPC (rs2228000, C>T), HLA-F (rs3129055, T>C), SPLUNC1 (rs2752903, T>C; and rs750064, A>G), and GABBR1 (rs29232, G>A) were associated with increased susceptibility to NPC. 28881764 2017
dbSNP: rs142436749
rs142436749
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0600139
Disease:
Prostate carcinoma 		G 0.700 GeneticVariation GWASCAT Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci. 29892016 2018
dbSNP: rs998749
rs998749
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs55641330
rs55641330
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs75193859
rs75193859
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs751689316
rs751689316
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0085669
Disease:
Acute leukemia 		0.010 GeneticVariation BEFREE Collaboration between AML1-D171N and Evi1 was confirmed by a BMT model where coexpression of AML1-D171N and Evi1 induced acute leukemia of the same phenotype with much shorter latencies. 18192504 2008
dbSNP: rs12634933
rs12634933
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study. 25189868 2015
dbSNP: rs16853722
rs16853722
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0017654
Disease:
Glomerular Filtration Rate 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs76273615
rs76273615
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005845
Disease:
Blood urea nitrogen measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C1305849
Disease:
Diastolic blood pressure measurement 		T 0.700 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011
dbSNP: rs419076
rs419076
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C1306620
Disease:
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASDB Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. 21909115 2011