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rs61747482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs61747482(C;C)
Make rs61747482(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position80955786
GeneCEP128, TSHR
is asnp
is mentioned by
dbSNPrs61747482
dbSNP (classic)rs61747482
ClinGenrs61747482
ebirs61747482
HLIrs61747482
Exacrs61747482
Gnomadrs61747482
Varsomers61747482
LitVarrs61747482
Maprs61747482
PheGenIrs61747482
Biobankrs61747482
1000 genomesrs61747482
hgdprs61747482
ensemblrs61747482
geneviewrs61747482
scholarrs61747482
googlers61747482
pharmgkbrs61747482
gwascentralrs61747482
openSNPrs61747482
23andMers61747482
SNPshotrs61747482
SNPdbers61747482
MSV3drs61747482
GWAS Ctlgrs61747482
GMAF0.002296
Max Magnitude0
OMIM603372
Desc
Variant0001
Relatedalso
ClinVar
Risk rs61747482(C;C)
Alt rs61747482(C;C)
Reference Rs61747482(G;G)
Significance Probable-non-pathogenic
Disease THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism Congenital hypothyroidism
Variation info
Gene TSHR
CLNDBN THYROTROPIN RECEPTOR POLYMORPHISM not specified Hyperthyroidism, nonautoimmune Congenital hypothyroidism
Reversed 0
HGVS NC_000014.8:g.81422130G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006799.3, RCV000122245.2, RCV000259846.1, RCV000373195.1,