rs10516487, BANK1

N. diseases: 11
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
0.880 GeneticVariation BEFREE In addition, we observed a genetic interaction between BLK (rs2736340T/C, rs13277113A/G) and BANK1 (R61H and A383T) associated with susceptibility to SLE. 31134304 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE Meta-analysis by autoimmune disease type revealed an association between both systemic lupus erythematosus and systemic sclerosis and the BANK1 rs10516487 T allele (OR = 1.294, 95% CI = 1.232-1.360, p<1.0 × 10-8, heterogeneity p = 0.556; OR = 1.102, 95% CI = 1.027-1.183, p = 0.017, heterogeneity p = 0.048). 28466820 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE We confirmed the association of rs548234, rs2736340 and rs10516487 with SLE in Chinese Han and reinforced our hypothesis of their epistasis effect in regulating B-cell signaling in SLE. 26420661 2016
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation GWASCAT Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. 26502338 2015
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE We selected and identified three SNPs of BANK1 associated with SLE (rs17266594, P = 1.949e-10; OR = 1.380; 95% CI: 1.250-1.525; rs10516487, P = 2.642e-13; OR = 1.317; 95% CI: 1.223-1.417; rs3733197, P = 3.452e-06; OR = 1.193; 95% CI: 1.107-1.286); one SNP of TNFAIP3 associated with SLE (rs2230926, P = 1.502e-12; OR = 1.826; 95% CI: 1.545-2.157). 21208380 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susceptibility to SLE and influence the ANA/SSA autoantibody response in SLE patients in Chinese population. 21078628 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE The strongest associations with SLE and BANK1 were at rs17266594 (corrected P-value=1.97 x 10(-5), odds ratio (OR)=1.22, 95% CI 1.12-1.34) and rs10516487 (corrected P-value=2.59 x 10(-5), OR=1.22, 95% CI 1.11-1.34). 19339986 2009
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE To investigate 1 functional (rs17266594) and 2 potentially functional (rs10516487 and rs3733197) BANK1 variants, which were previously identified as systemic lupus erythematosus (SLE) susceptibility markers, to test whether they are associated with rheumatoid arthritis (RA). 19180476 2009
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation BEFREE In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. 18204447 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation GWASCAT In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. 18204447 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.880 GeneticVariation GWASDB In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. 18204447 2008
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.020 GeneticVariation BEFREE However, meta-analysis failed to indicate an association between the BANK1 rs10516487 T allele and rheumatoid arthritis (RA; OR = 1.006, 95% CI = 1.956-1.058, p = 0.819). 28466820 2017
Encephalitis, St. Louis
CUI: C0014060
Disease: Encephalitis, St. Louis
0.020 GeneticVariation BEFREE SLE was associated with frequency of rs548234 (P = 0.010; odds ratio [OR] = 1.298), rs2736340 (P = 2.47 × 10<sup>-5</sup> ; OR = 1.574) and rs10516487 (P = 0.002; OR = 0.642). 26420661 2016
Encephalitis, St. Louis
CUI: C0014060
Disease: Encephalitis, St. Louis
0.020 GeneticVariation BEFREE This study implies that rs10516487 and rs17266594 polymorphisms might contribute to individual susceptibility to SLE and influence the ANA/SSA autoantibody response in SLE patients in Chinese population. 21078628 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.020 GeneticVariation BEFREE A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation. 19815934 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.020 GeneticVariation BEFREE We did not find a significant association between RA and the rs10516487 and rs17266594 BANK1 polymorphisms. 19180476 2009
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.020 GeneticVariation BEFREE To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4. 19877059 2009
Hemophilia A
CUI: C0019069
Disease: Hemophilia A
0.010 GeneticVariation BEFREE We analysed eight SNPs (MAPK9 rs4147385, CSF1R rs17725712, CD44 rs927335, STAT4 rs7574865, IKZF1 rs4917014, ETS1 rs6590330, BANK1 rs17266594 and rs10516487) by Snapshot SNP genotyping assays in 100 haemophilia A patients, including 29 with inhibitors and 71 without inhibitors. 31149782 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.010 GeneticVariation BEFREE This meta-analysis demonstrates that BANK1 rs10516487, rs3733197, and rs17266594 polymorphisms are associated with susceptibility to autoimmune diseases. 28466820 2017
Graft-vs-Host Disease
CUI: C0018133
Disease: Graft-vs-Host Disease
0.010 GeneticVariation BEFREE The donor rs10516487 (BANK1: B-cell scaffold protein with ankyrin repeats 1) TT genotype was associated with lower risk of sclerotic GVHD (hazard ratio [HR], 0.43; 95% confidence interval [CI], 0.21-0.87; P = .02). 27313329 2016
Primary Sjögren's syndrome
CUI: C0151449
Disease: Primary Sjögren's syndrome
0.010 GeneticVariation BEFREE Our results indicated that the SNPs (rs2736340, rs13277113) of the FAM167A-BLK region, but not the BANK1 SNPs (rs4522865, rs17266594, and rs10516487), were associated with the development of pSS in Han Chinese. 23899688 2013
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.010 GeneticVariation BEFREE This study aimed to determine the association between three functional SNPs of BANK1 (rs10516487, rs17266594 and rs3733197) with psoriasis in Southern Han Chinese population by determining their frequency in 242 patients with psoriasis and 317 healthy individuals. 21989138 2011
Diffuse Scleroderma
CUI: C1258104
Disease: Diffuse Scleroderma
0.010 GeneticVariation BEFREE The BANK1 variants were found to be associated with diffuse cutaneous SSc (dcSSc) in both cohorts, providing an odds ratio (OR) of 0.77 for the rs10516487 T rare allele in the combined populations of dcSSc patients as compared with the combined populations of controls (95% confidence interval [95% CI] 0.64-0.93) and an OR of 0.73 (95% CI 0.61-0.87) for the rs3733197 A rare allele. 19877059 2009