Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370504038
rs370504038
0.010 GeneticVariation BEFREE Five heterozygous mutations were detected at the Y305C polymorphism in European lupus cases but none were observed in European controls. 21270825

2011

dbSNP: rs121908117
rs121908117
0.010 GeneticVariation BEFREE Thus, dysfunctional dsDNA degradation by TREX1 D18N induces disease in mice that recapitulates many characteristics of human lupus. 25848017

2015

dbSNP: rs72556554
rs72556554
0.010 GeneticVariation BEFREE The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424

2011

dbSNP: rs1150754
rs1150754
0.010 GeneticVariation BEFREE For the first time, we have shown that the polymorphisms located in the <i>STAT4</i> (rs7574865), but not in the <i>ITGAM</i> (rs1143679) nor the <i>TNXB</i> (rs1150754) genes, might be associated with the development of DLE within the Polish population. 28670251

2017

dbSNP: rs10488631
rs10488631
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

dbSNP: rs10489265
rs10489265
0.010 GeneticVariation BEFREE The SNPs of TNFSF4 were associated with renal involvement in lupus patients from the Chinese population (P values for rs2205960 and rs10489265 were 0.014 and 0.005 in additive model, resp.). 23936824

2013

dbSNP: rs2205960
rs2205960
0.010 GeneticVariation BEFREE The SNPs of TNFSF4 were associated with renal involvement in lupus patients from the Chinese population (P values for rs2205960 and rs10489265 were 0.014 and 0.005 in additive model, resp.). 23936824

2013

dbSNP: rs3810936
rs3810936
0.010 GeneticVariation BEFREE Our findings indicate that gene polymorphisms (rs3810936, rs7848647) of TL1A might correlate with lupus. 31081141

2019

dbSNP: rs7848647
rs7848647
0.010 GeneticVariation BEFREE Our findings indicate that gene polymorphisms (rs3810936, rs7848647) of TL1A might correlate with lupus. 31081141

2019

dbSNP: rs12583006
rs12583006
0.010 GeneticVariation BEFREE Moreover, the presence of the AA genotype of the rs12583006 BAFF gene variant increased susceptibility for both lupus and lupus related plaque formation (ORs [95%CI]: 2.8 [1.1-7.1], and 4.4 [1.3-15.4] in the codominant model, respectively). 29859654

2018

dbSNP: rs5029939
rs5029939
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

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE For the first time, we have shown that the polymorphisms located in the <i>STAT4</i> (rs7574865), but not in the <i>ITGAM</i> (rs1143679) nor the <i>TNXB</i> (rs1150754) genes, might be associated with the development of DLE within the Polish population. 28670251

2017

dbSNP: rs7574865
rs7574865
0.020 GeneticVariation BEFREE The haplotype marked by rs7574865 was strongly associated with lupus, being present on 31% of chromosomes of case patients and 22% of those of controls (P=1.87x10(-9); odds ratio for having the risk allele in chromosomes of patients vs. those of controls, 1.55). 17804842

2007

dbSNP: rs11889341
rs11889341
0.010 GeneticVariation BEFREE Consistent with expression quantitative trait locus (eQTL) analysis, the l</span>upus risk allele of rs11889341 decreased the activity of this putative repressor. 29912393

2018

dbSNP: rs12938
rs12938
0.010 GeneticVariation BEFREE We identified increased levels of soluble L-selectin (sL-selectin), but not soluble E-selectin (sE-selectin) in 278 European-Caucasian lupus patients compared to 230 healthy siblings (P=0.002). sL-selectin levels were markedly elevated in patients with IgG antiphospholipid autoantibodies (P=0.002), suggesting that perhaps sL-selectin defines a subgroup of lupus with vasculopathy. sL-selectin level was also influenced by two L-selectin polymorphisms: 665C>T, F206L in the epidermal growth factor-like domain (P=0.015) and rs12938 in the 3'-untranslated region (P=0.06). 15902275

2005

dbSNP: rs2476601
rs2476601
0.030 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

dbSNP: rs2476601
rs2476601
0.030 GeneticVariation BEFREE The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interferon-alpha activity and low tumor necrosis factor alpha levels in patients with lupus. 18759295

2008

dbSNP: rs2476601
rs2476601
0.030 GeneticVariation BEFREE The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide polymorphism, C1858T, associated with several autoimmune diseases such as type I diabetes, rheumatoid arthritis, and lupus. 23359562

2013

dbSNP: rs1341239
rs1341239
0.010 GeneticVariation BEFREE This preliminary study examined the relevance of a -1149G/T functional single-nucleotide polymorphism (SNP) (rs1341239) in the promoter of the extrapituitary prolactin gene in a cohort of African American and European American women with lupus. 26583155

2015

dbSNP: rs1799983
rs1799983
0.010 GeneticVariation BEFREE The aim of this study was to evaluate the possible association between six SNPs (A-5466C, T-3892C, A-240T, C1237T, G2215A and A2350G) of the ACE gene and two SNPs (T-786C and G894T) of the eNOS gene with lupus nephropathy in a northern Chinese population. 20540812

2010

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE In this study, we evaluated 40 patients with antiphospholipid syndrome and thrombosis, 31 primary and nine secondary to systemic lupus erythemathosus, to estimate the carrier rates of factor V Leiden, 20210A --> G prothrombin variant and 677C --> T in the MTHFR gene. 11085290

2000

dbSNP: rs3131379
rs3131379
0.010 GeneticVariation BEFREE Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk alleles in rs1270942 and rs3131379 increases the odds of also carrying the lupus risk allele in IRF5 (rs2070197) by 17% and 16%, respectively (P = 0.0028 and P = 0.0047, respectively). 21952918

2012

dbSNP: rs1678542
rs1678542
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

dbSNP: rs1143679
rs1143679
0.020 GeneticVariation BEFREE The rs1143679 (R77H) lupus associated variant of ITGAM (CD11b) impairs complement receptor 3 mediated functions in human monocytes. 22586164

2012

dbSNP: rs1143679
rs1143679
0.020 GeneticVariation BEFREE For the first time, we have shown that the polymorphisms located in the <i>STAT4</i> (rs7574865), but not in the <i>ITGAM</i> (rs1143679) nor the <i>TNXB</i> (rs1150754) genes, might be associated with the development of DLE within the Polish population. 28670251

2017