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rs179247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.4 Slight increase (1.4x) in risk for Graves disease
Make rs179247(A;G)
Make rs179247(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position80966202
GeneTSHR
is asnp
is mentioned by
dbSNPrs179247
ebirs179247
HLIrs179247
Exacrs179247
Varsomers179247
Maprs179247
PheGenIrs179247
hapmaprs179247
1000 genomesrs179247
hgdprs179247
ensemblrs179247
gopubmedrs179247
geneviewrs179247
scholarrs179247
googlers179247
pharmgkbrs179247
gwascentralrs179247
openSNPrs179247
23andMers179247
23andMe allrs179247
SNP Nexus

SNPshotrs179247
SNPdbers179247
MSV3drs179247
GWAS Ctlgrs179247
GMAF0.3806
Max Magnitude1.4

A meta-analysis including eight studies (totaling 6,976 cases and 7,089 controls) reports an association between rs179247(A) with Graves disease (odds ratio 1.4, CI: 1.353-1.495, p<0.001), and the associations were the same under dominant, recessive and co-dominant models.[PMID 27231040OA-icon.png]

? (A;A) (A;G) (G;G) 28

[PMID 19244275] Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease


[PMID 21124799OA-icon.png] Thyroid Stimulating Hormone Receptor (TSHR) Intron 1 Variants Are Major Risk Factors for Graves' Disease in Three European Caucasian Cohorts

OMIM275000
Desc
Variant
Relatedalso


[PMID 22673349] Association between thyroid stimulating hormone receptor gene intron polymorphisms and autoimmune thyroid disease in a Chinese Han population


[PMID 21642385] Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.