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rs1991517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
(G;G) 0 common in clinvar
Make rs1991517(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position81144239
GeneLOC101928431, TSHR
is asnp
is mentioned by
dbSNPrs1991517
ebirs1991517
HLIrs1991517
Exacrs1991517
Varsomers1991517
Maprs1991517
PheGenIrs1991517
hapmaprs1991517
1000 genomesrs1991517
hgdprs1991517
ensemblrs1991517
gopubmedrs1991517
geneviewrs1991517
scholarrs1991517
googlers1991517
pharmgkbrs1991517
gwascentralrs1991517
openSNPrs1991517
23andMers1991517
23andMe allrs1991517
SNP Nexus

SNPshotrs1991517
SNPdbers1991517
MSV3drs1991517
GWAS Ctlgrs1991517
GMAF0.1088
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene TSHR
allele C
frequency 0.917
sift TOLERATED
HuRef 1103649110609
Disease Association Defects in TSHR are the cause of nonautoimmune hyperthyroidism (MIM:609152). In a subset of patients with 'congenital Graves disease' the hyperthyroidism is not caused by antithyroid antibodies, but rather by mutations in TSHR. The thyroid gland is enlarged in most patients with nonautoimmune hyperthyroidism, but features of Graves disease, such as thyroid- associated ophthalmopathy, pretibial myxedema, lymphocytic infiltration of the thyroid, and thyroid antibodies, are absent. Hyperthyroidism occurred at any time from the neonatal period to adulthood.



Neighborrs28937584
Distance284
[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.


GET Evidence
TSHR-E727D
aa_change Glu727Asp
aa_change_short E727D
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.919595
summary



ClinVar
Risk rs1991517(C;C)
Alt rs1991517(C;C)
Reference rs1991517(G;G)
Significance Untested
Disease not specified
Variation info
Gene LOC101928431 TSHR
CLNDBN not specified
Reversed 0
HGVS NC_000014.8:g.81610583G>C
CLNSRC ClinVar
CLNACC RCV000122254.1,