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rs121918708

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918708(A;A)
Make rs121918708(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position24123122
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918708
dbSNP (classic)rs121918708
ClinGenrs121918708
ebirs121918708
HLIrs121918708
Exacrs121918708
Gnomadrs121918708
Varsomers121918708
LitVarrs121918708
Maprs121918708
PheGenIrs121918708
Biobankrs121918708
1000 genomesrs121918708
hgdprs121918708
ensemblrs121918708
geneviewrs121918708
scholarrs121918708
googlers121918708
pharmgkbrs121918708
gwascentralrs121918708
openSNPrs121918708
23andMers121918708
SNPshotrs121918708
SNPdbers121918708
MSV3drs121918708
GWAS Ctlgrs121918708
Merged fromRs28934868
Max Magnitude0
OMIM190160
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121918708(A;A)
Alt rs121918708(A;A)
Reference Rs121918708(G;G)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.24164613C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013396.23,