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rs121908868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908868(A;A)
Make rs121908868(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position81143286
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908868
dbSNP (classic)rs121908868
ClinGenrs121908868
ebirs121908868
HLIrs121908868
Exacrs121908868
Gnomadrs121908868
Varsomers121908868
LitVarrs121908868
Maprs121908868
PheGenIrs121908868
Biobankrs121908868
1000 genomesrs121908868
hgdprs121908868
ensemblrs121908868
geneviewrs121908868
scholarrs121908868
googlers121908868
pharmgkbrs121908868
gwascentralrs121908868
openSNPrs121908868
23andMers121908868
SNPshotrs121908868
SNPdbers121908868
MSV3drs121908868
GWAS Ctlgrs121908868
Max Magnitude0
OMIM603372
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908868(A;A)
Alt rs121908868(A;A)
Reference Rs121908868(G;G)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene LOC101928431 TSHR
CLNDBN Hypothyroidism, congenital, nongoitrous, 1
Reversed 0
HGVS NC_000014.8:g.81609630G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006811.4,