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: rs10711289
rs10711289
Entrez Id: 2122;105374205
Gene Symbol: MECOM;MECOM-AS1
MECOM;MECOM-AS1
CUI: C0018935
Disease:
Hematocrit procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs10936584
rs10936584
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11718956
rs11718956
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12491785
rs12491785
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0032181
Disease:
Platelet Count measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12494190
rs12494190
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs12632583
rs12632583
Entrez Id: 2122;105374205
Gene Symbol: MECOM;MECOM-AS1
MECOM;MECOM-AS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
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: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C1305849
Disease:
Diastolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C1306620
Disease:
Systolic blood pressure measurement 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0001948
Disease:
Alcohol consumption 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290784
rs1290784
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0428886
Disease:
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290786
rs1290786
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0428886
Disease:
Mean blood pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs1290790
rs1290790
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1290790
rs1290790
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1343040
rs1343040
Entrez Id: 2122;105374205
Gene Symbol: MECOM;MECOM-AS1
MECOM;MECOM-AS1
CUI: C0005823
Disease:
Blood Pressure 		0.700 GeneticVariation GWASDB Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. 21909110 2011
dbSNP: rs1344555
rs1344555
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0016529
Disease:
Forced expiratory volume function 		T 0.700 GeneticVariation GWASCAT Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1344555
rs1344555
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0035227
Disease:
Respiratory Function Tests 		T 0.700 GeneticVariation GWASCAT Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1344555
rs1344555
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C3160731
Disease:
Pulmonary function (finding) 		T 0.700 GeneticVariation GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1344555
rs1344555
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0231921
Disease:
Pulmonary function 		T 0.700 GeneticVariation GWASDB Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. 21946350 2011
dbSNP: rs1406835103
rs1406835103
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0345905
Disease:
Intrahepatic Cholangiocarcinoma 		0.010 GeneticVariation BEFREE Recently, we proposed type 1/2 (large/small duct types) classification of ICC based on mucin productivity and immunophenotypes (S100P, N-cadherin, and NCAM). 30349952 2019
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: rs16853173
rs16853173
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0001948
Disease:
Alcohol consumption 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs16853173
rs16853173
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018