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rs121908867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908867(C;T)
Make rs121908867(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position81143028
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908867
dbSNP (classic)rs121908867
ClinGenrs121908867
ebirs121908867
HLIrs121908867
Exacrs121908867
Gnomadrs121908867
Varsomers121908867
LitVarrs121908867
Maprs121908867
PheGenIrs121908867
Biobankrs121908867
1000 genomesrs121908867
hgdprs121908867
ensemblrs121908867
geneviewrs121908867
scholarrs121908867
googlers121908867
pharmgkbrs121908867
gwascentralrs121908867
openSNPrs121908867
23andMers121908867
SNPshotrs121908867
SNPdbers121908867
MSV3drs121908867
GWAS Ctlgrs121908867
Max Magnitude0
OMIM603372
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908867(T;T)
Alt rs121908867(T;T)
Reference Rs121908867(C;C)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene LOC101928431 TSHR
CLNDBN Hypothyroidism, congenital, nongoitrous, 1
Reversed 0
HGVS NC_000014.8:g.81609372C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006810.3,