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rs121908870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908870(A;A)
Make rs121908870(A;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position81143633
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908870
dbSNP (classic)rs121908870
ClinGenrs121908870
ebirs121908870
HLIrs121908870
Exacrs121908870
Gnomadrs121908870
Varsomers121908870
LitVarrs121908870
Maprs121908870
PheGenIrs121908870
Biobankrs121908870
1000 genomesrs121908870
hgdprs121908870
ensemblrs121908870
geneviewrs121908870
scholarrs121908870
googlers121908870
pharmgkbrs121908870
gwascentralrs121908870
openSNPrs121908870
23andMers121908870
SNPshotrs121908870
SNPdbers121908870
MSV3drs121908870
GWAS Ctlgrs121908870
Max Magnitude0
OMIM603372
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908870(A;A)
Alt rs121908870(A;A)
Reference Rs121908870(C;C)
Significance Pathogenic
Disease Hypothyroidism
Variation info
Gene LOC101928431 TSHR
CLNDBN Hypothyroidism, congenital, nongoitrous, 1
Reversed 0
HGVS NC_000014.8:g.81609977C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006813.4,