Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1049550
rs1049550
0.770 GeneticVariation BEFREE ''C'' allele of SNP rs1049550 may be a risk factor for sarcoidosis in overall population. 27537711

2016

dbSNP: rs2296283
rs2296283
0.010 GeneticVariation BEFREE Sarcoidosis, in general, was significantly associated with three SNPs in the VEGFR-1 gene: rs7337610 (P = .041), rs2296283 (P = .034), and rs12858139 (P = .027). 19741061

2010

dbSNP: rs12858139
rs12858139
0.010 GeneticVariation BEFREE Sarcoidosis, in general, was significantly associated with three SNPs in the VEGFR-1 gene: rs7337610 (P = .041), rs2296283 (P = .034), and rs12858139 (P = .027). 19741061

2010

dbSNP: rs1049550
rs1049550
0.770 GeneticVariation BEFREE A common nonsynonymous SNP (rs1049550, C > T, [corrected] R230C) was found to be strongly associated with sarcoidosis. 19165924

2008

dbSNP: rs479777
rs479777
0.810 GeneticVariation GWASDB A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380

2012

dbSNP: rs479777
rs479777
0.810 GeneticVariation GWASCAT A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. 22837380

2012

dbSNP: rs2075800
rs2075800
0.010 GeneticVariation BEFREE A strong association was found between HSP-70/Hom rs2075800 G and uveitis in patients with sarcoidosis. 17591867

2007

dbSNP: rs61860052
rs61860052
0.010 GeneticVariation BEFREE After adjustment for rs1049550, two additional novel ANXA11 sarcoidosis associations were identified only in African Americans--rs61860052 (odds ratio (OR)=0.62; 95% confidence interval (CI)=0.40-0.97) and rs4377299 (OR=1.31; 95% CI=1.06-1.63). 23151485

2013

dbSNP: rs4377299
rs4377299
0.010 GeneticVariation BEFREE After adjustment for rs1049550, two additional novel ANXA11 sarcoidosis associations were identified only in African Americans--rs61860052 (odds ratio (OR)=0.62; 95% confidence interval (CI)=0.40-0.97) and rs4377299 (OR=1.31; 95% CI=1.06-1.63). 23151485

2013

dbSNP: rs748009686
rs748009686
0.010 GeneticVariation BEFREE After correction for multiple testing, an IFNA17 polymorphism (551T-->G) was found to be associated with susceptibility to sarcoidosis (odds ratio 3.27 [95% CI: 1.44-7.46], P=0.004, P(c)=0.04), but not to tuberculosis. 15004750

2004

dbSNP: rs9298814
rs9298814
0.010 GeneticVariation BEFREE After correction for multiple testing, an IFNA17 polymorphism (551T-->G) was found to be associated with susceptibility to sarcoidosis (odds ratio 3.27 [95% CI: 1.44-7.46], P=0.004, P(c)=0.04), but not to tuberculosis. 15004750

2004

dbSNP: rs1800076
rs1800076
0.010 GeneticVariation BEFREE Although R75Q was present in seven families, it was neither associated with the sarcoidosis phenotype in the German population (P=0.5), nor was it linked to sarcoidosis (P=0.54). 12404105

2002

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE Although rs2076530</span> was not associated with sarcoidosis in either African American sample, a three-locus haplotype that included rs2076530 was associated with sarcoidosis across all three study samples. 16080124

2005

dbSNP: rs1462906
rs1462906
0.010 GeneticVariation BEFREE Among the eight other markers that demonstrated suggestive ancestry associations with sarcoidosis were rs1462906 on chromosome 8p12, which had the most significant association with European ancestry (aRR=0.65; P=0.002), and markers on chromosomes 5p13 (aRR=1.46; P=0.005) and 5q31 (aRR=0.67; P=0.005), which correspond to regions we previously identified through sib-pair linkage analyses. 21179114

2011

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE An association has been reported between sarcoidosis and a single nucleotide polymorphism in BTNL2, rs2076530, also termed the A allele. 21410903

2011

dbSNP: rs1049550
rs1049550
0.770 GeneticVariation BEFREE Annexin A11 gene polymorphism (R230C variant) and sarcoidosis in a Portuguese population. 24032725

2013

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups. 30872286

2019

dbSNP: rs3817963
rs3817963
0.710 GeneticVariation BEFREE Both BTNL2 SNPs were associated with risk of sarcoidosis in separate models, but in a combined analysis the increased risk was due to the A-allele of the rs3817963 SNP; each copy of the A-allele was associated with a 40 % increase in risk of sarcoidosis (p = 0.02) and was confirmed by our haplotypic analysis. 23543185

2013

dbSNP: rs206530
rs206530
0.010 GeneticVariation BEFREE BTNL2 rs206530 A allele frequencies were significantly higher in sarcoidosis with no linkage disequilibrium with HLA-DRB1 alleles, except in the subgroup of patients with Löfgren syndrome where the determinant allele was HLA-DRB1*03. 23017494

2012

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation BEFREE But, no significant association was detected between any of the polymorphisms investigated and TB, including rs2076530 SNP that was previously found to be associated with sarcoidosis. 20176143

2010

dbSNP: rs1883832
rs1883832
0.020 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239

2017

dbSNP: rs3177928
rs3177928
0.010 GeneticVariation BEFREE Five SNPs were associated with sarcoidosis disease course (the strongest association with rs3177928, <i>P</i> = 0.003, OR = 1.9). 28469621

2017

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation GWASDB Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs2076530
rs2076530
0.900 GeneticVariation GWASCAT Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013

dbSNP: rs1953600
rs1953600
0.800 GeneticVariation GWASCAT Genome-wide association analysis reveals 12q13.3-q14.1 as new risk locus for sarcoidosis. 22936702

2013