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
0.800 GeneticVariation UNIPROT Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 26581901 2015
dbSNP: rs864309723
rs864309723
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C4225221
Disease:
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
0.800 GeneticVariation UNIPROT Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 26581901 2015
dbSNP: rs864309724
rs864309724
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C4225221
Disease:
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
0.800 GeneticVariation UNIPROT Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. 26581901 2015
dbSNP: rs784288
rs784288
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0029456
Disease:
Osteoporosis
A 0.800 GeneticVariation GWASDB Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture. 23349225 2013
dbSNP: rs784288
rs784288
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0029456
Disease:
Osteoporosis
A 0.800 GeneticVariation GWASCAT Meta-analysis identifies a MECOM gene as a novel predisposing factor of osteoporotic fracture. 23349225 2013
dbSNP: rs16853722
rs16853722
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005845
Disease:
Blood urea nitrogen measurement
C 0.800 GeneticVariation GWASDB Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
dbSNP: rs16853722
rs16853722
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0005845
Disease:
Blood urea nitrogen measurement
C 0.800 GeneticVariation GWASCAT Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. 22797727 2012
dbSNP: rs448378
rs448378
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0373675
Disease:
Magnesium measurement
G 0.800 GeneticVariation GWASDB Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. 20700443 2010
dbSNP: rs448378
rs448378
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0373675
Disease:
Magnesium measurement
G 0.800 GeneticVariation GWASCAT Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. 20700443 2010
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: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.740 GeneticVariation BEFREE In this study, in southern China, where NPC is endemic, a single nucleotide polymorphism (SNP) in the EBV-encoded <i>RPMS1</i> gene (locus 155391: G > A [G155391A]) and seven host SNPs (rs1412829, rs28421666, rs2860580, rs2894207, rs31489, rs6774494, and rs9510787) were confirmed to be significantly associated with NPC risk in 50 NPC cases versus 54 hospital-based controls with throat washing specimens and 1925 NPC cases versus 1947 hospital-based controls with buffy coat samples, respectively. 29221111 2017
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: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.740 GeneticVariation BEFREE Our results also provide support for associations reported from published NPC GWAS-rs6774494 (P = 1.5 × 10(-12); located in the MECOM gene region), rs9510787 (P = 5.0 × 10(-10); located in the TNFRSF19 gene region), and rs1412829/rs4977756/rs1063192 (P = 2.8 × 10(-8), P = 7.0 × 10(-7), and P = 8.4 × 10(-7), respectively; located in the CDKN2A/B gene region). 26545403 2016
dbSNP: rs6774494
rs6774494
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C2931822
Disease:
Nasopharyngeal carcinoma
0.740 GeneticVariation BEFREE Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR 95% CI = 0.77, 0.68-0.88), MDS1-EVI1 (OR 95% CI=0.79 0.69-0.89) and CCDC170 (OR 95% CI = 0.76, 0.66-0.86) conferred modest protective effects individually for NPC risk by the logistic regression analysis after multiple testing adjustment (p(Bonferroni)  < 0.05). 24615621 2014
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: 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: 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: 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: 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: rs1997280
rs1997280
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: rs2421648
rs2421648
Entrez Id: 2122
Gene Symbol: MECOM
MECOM
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019