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rs121908863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908863(C;G)
Make rs121908863(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position81092547
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908863
dbSNP (classic)rs121908863
ClinGenrs121908863
ebirs121908863
HLIrs121908863
Exacrs121908863
Gnomadrs121908863
Varsomers121908863
LitVarrs121908863
Maprs121908863
PheGenIrs121908863
Biobankrs121908863
1000 genomesrs121908863
hgdprs121908863
ensemblrs121908863
geneviewrs121908863
scholarrs121908863
googlers121908863
pharmgkbrs121908863
gwascentralrs121908863
openSNPrs121908863
23andMers121908863
SNPshotrs121908863
SNPdbers121908863
MSV3drs121908863
GWAS Ctlgrs121908863
GMAF0.0009183
Max Magnitude0
OMIM603372
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908863(G;G)
Alt rs121908863(G;G)
Reference Rs121908863(C;C)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene LOC101928462 TSHR
CLNDBN Hypothyroidism, congenital, nongoitrous, 1
Reversed 0
HGVS NC_000014.8:g.81558891C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006805.4,