rs2647012, None

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.800 GeneticVariation GWASCAT Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. 24925725 2014
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.800 GeneticVariation GWASDB GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. 24871463 2014
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.740 GeneticVariation BEFREE We confirmed that FL-protective rs2647012-linked variants, in high linkage disequilibrium with the extended haplotype DRB1*15:01-DQA1*01:02-DQB1*06:02, correlate with increased HLA-DQB1 expression. 24304973 2014
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.740 GeneticVariation BEFREE rs9275517 and rs3117222 in the HLA class II region were validated and inversely associated with FL risk (rs9275517: OR = 0.63, 95% CI = 0.55-0.73, p = 4.03 × 10(-11); rs3117222: OR = 0.66, 95% CI = 0.57-0.77, p = 1.45 × 10(-7)). rs9275517, which is in high linkage disequilibrium with rs2647012 (r2 = 0.9), was no longer associated with FL after conditioning on rs2647012. 23025665 2012
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.740 GeneticVariation BEFREE The TAP2 SNP was strongly associated with follicular lymphoma (FL, OR = 1.82, 95%CI 1.46-2.26; p = 6.9 × 10(-8)), and was independent of other known loci (rs10484561 and rs2647012) from this region. 22911334 2012
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.740 GeneticVariation GWASDB Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. 21533074 2011
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.740 GeneticVariation BEFREE Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. 21533074 2011
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
0.700 GeneticVariation GWASCAT Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. 24925725 2014
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 GeneticVariation GWASDB Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. 23242368 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
Mature B-Cell Neoplasm
CUI: C1334633
Disease: Mature B-Cell Neoplasm
0.700 GeneticVariation GWASCAT GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma. 21533074 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.700 GeneticVariation GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.700 GeneticVariation GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE Minor allele rs2647012-T is linked to higher expression of HLA-DQB1, rendering a protective effect to NHL risk. 28139690 2017
Lymphoma, Non-Hodgkin
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
0.020 GeneticVariation BEFREE Only two variants (rs872071 in IRF4 and rs2647012 in HLA class II) were significantly associated with NHL risk in Chinese, with the ORs of 1.20 (95% CI, 1.05-1.38; P = 0.009) and 1.20 (95% CI, 1.03-1.39; P = 0.018) for per allele of rs872071 and rs2647012, respectively, calculated using an additive model. 23455380 2013