Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434257
rs121434257
AIRE
0.010 GeneticVariation BEFREE The G228W closely cosegregated with hypothyroid autoimmune thyroiditis in our family, whereas a low penetrance of the full autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype was observed. 11600535

2001
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.720 GeneticVariation BEFREE The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. 16464986

2006
dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. 18426810

2008
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. 18426810

2008
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.720 GeneticVariation BEFREE To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis. 20438787

2010
dbSNP: rs1133076
rs1133076
TG
0.010 GeneticVariation BEFREE We studied six polymorphisms distributed throughout all the thyroglobulin gene: four microsatellites (Tgms1, Tgms2, TGrI29 and TGrI30), one insertion/deletion (Indel) polymorphism (IndelTG-IVS18) and one exonic single nucleotide polymorphism (SNP) (c.7589G>A) in 122 patients with autoimmune thyroiditis compared with 100 non-related normal subjects. 20960158

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
A 0.720 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs11571297
rs11571297 		G 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs13093110
rs13093110
LPP
T 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs1534422
rs1534422
MIR3681HG
G 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs4409785
rs4409785 		C 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs57348955
rs57348955 		G 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs706779
rs706779
IL2RA
A 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs72928038
rs72928038
BACH2
A 0.700 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229

2012
dbSNP: rs4986790
rs4986790
TLR4
0.010 GeneticVariation BEFREE We also found that rs4986790 AG and rs4986791 CT genotypes were significantly associated with presence of autoimmune thyroiditis (pc=.002). 24176535

2014
dbSNP: rs4986791
rs4986791
TLR4
0.010 GeneticVariation BEFREE We also found that rs4986790 AG and rs4986791 CT genotypes were significantly associated with presence of autoimmune thyroiditis (pc=.002). 24176535

2014
dbSNP: rs2270450
rs2270450
SLC25A27 ; LOC101926934
T 0.700 GeneticVariation GWASCAT Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease. 25429627

2015
dbSNP: rs7537605
rs7537605
VAV3
0.700 GeneticVariation GWASCAT Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease. 25429627

2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
A 0.720 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs1015166
rs1015166
TAP2
T 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
C 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs1980493
rs1980493
BTNL2 ; TSBP1-AS1
G 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs2153977
rs2153977
MAGI3
T 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs2251396
rs2251396
MICA-AS1
T 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015
dbSNP: rs2358994
rs2358994
BCL2L15 ; AP4B1-AS1
A 0.700 GeneticVariation GWASCAT Genome wide identification of new genes and pathways in patients with both autoimmune thyroiditis and type 1 diabetes. 25936594

2015