rs2268458
From SNPedia
Orientation | plus |
Stabilized | plus |
Make rs2268458(C;C) |
Make rs2268458(C;T) |
Make rs2268458(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 80996551 |
Gene | TSHR |
is a | snp |
is | mentioned by |
dbSNP | rs2268458 |
dbSNP (classic) | rs2268458 |
ClinGen | rs2268458 |
ebi | rs2268458 |
HLI | rs2268458 |
Exac | rs2268458 |
Gnomad | rs2268458 |
Varsome | rs2268458 |
LitVar | rs2268458 |
Map | rs2268458 |
PheGenI | rs2268458 |
Biobank | rs2268458 |
1000 genomes | rs2268458 |
hgdp | rs2268458 |
ensembl | rs2268458 |
geneview | rs2268458 |
scholar | rs2268458 |
rs2268458 | |
pharmgkb | rs2268458 |
gwascentral | rs2268458 |
openSNP | rs2268458 |
23andMe | rs2268458 |
SNPshot | rs2268458 |
SNPdbe | rs2268458 |
MSV3d | rs2268458 |
GWAS Ctlg | rs2268458 |
GMAF | 0.1988 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 18925838] rs2268458 was associated with Graves' disease
[PMID 16106256] Association of the TSHR gene with Graves' disease: the first disease specific locus.
[PMID 17608818] Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy.
[PMID 29093229] The Role of Cytotoxic T-lymphocyte-associated Protein 4 (CTLA-4) Gene, Thyroid Stimulating Hormone Receptor (TSHR) Gene and Regulatory T-cells as Risk Factors for Relapse in Patients with Graves Disease.