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rs121908872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908872(A;A)
Make rs121908872(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position81143715
GeneLOC101928462, TSHR
is asnp
is mentioned by
dbSNPrs121908872
dbSNP (classic)rs121908872
ClinGenrs121908872
ebirs121908872
HLIrs121908872
Exacrs121908872
Gnomadrs121908872
Varsomers121908872
LitVarrs121908872
Maprs121908872
PheGenIrs121908872
Biobankrs121908872
1000 genomesrs121908872
hgdprs121908872
ensemblrs121908872
geneviewrs121908872
scholarrs121908872
googlers121908872
pharmgkbrs121908872
gwascentralrs121908872
openSNPrs121908872
23andMers121908872
SNPshotrs121908872
SNPdbers121908872
MSV3drs121908872
GWAS Ctlgrs121908872
Max Magnitude0
OMIM603372
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121908872(A;A) rs121908872(T;T)
Alt rs121908872(A;A) rs121908872(T;T)
Reference Rs121908872(G;G)
Significance Pathogenic
Disease Hypothyroidism Hyperthyroidism Congenital hypothyroidism
Variation info
Gene LOC101928431 TSHR
CLNDBN Hypothyroidism, congenital, nongoitrous, 1 Hyperthyroidism, nonautoimmune Congenital hypothyroidism
Reversed 0
HGVS NC_000014.8:g.81610059G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006815.3, RCV000314691.1, RCV000390058.1,