rs1678542, KIF5A

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASCAT Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. 24449572 2014
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation BEFREE Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs4810485 (CD40), rs5029937 (6q23), rs10760130 (TRAF1/C5) and rs7574865 (STAT4)) were significantly associated with RA by meta-analysis. 20498205 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation BEFREE Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry. 18794857 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB Common variants at CD40 and other loci confer risk of rheumatoid arthritis. 18794853 2008
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASCAT Common variants at CD40 and other loci confer risk of rheumatoid arthritis. 18794853 2008
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.710 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.710 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
0.010 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158 2015
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.010 GeneticVariation BEFREE Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1.19, 95% CI=1.10-1.27) and rs763361 in CD226 (P=0.00007, OR=1.16, 95%CI=1.08-1.25). 20508602 2010
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE Our new evidence adds to that previously published for the same gene region in a T1D case-control study (rs1678542; P=3.0 x 10(-4); odds ratio (OR)=0.92, 95% CI=0.88-0.96). 19956108 2009