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rs121918692

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918692(A;G)
Make rs121918692(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position24122943
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918692
dbSNP (classic)rs121918692
ClinGenrs121918692
ebirs121918692
HLIrs121918692
Exacrs121918692
Gnomadrs121918692
Varsomers121918692
LitVarrs121918692
Maprs121918692
PheGenIrs121918692
Biobankrs121918692
1000 genomesrs121918692
hgdprs121918692
ensemblrs121918692
geneviewrs121918692
scholarrs121918692
googlers121918692
pharmgkbrs121918692
gwascentralrs121918692
openSNPrs121918692
23andMers121918692
SNPshotrs121918692
SNPdbers121918692
MSV3drs121918692
GWAS Ctlgrs121918692
Max Magnitude0
OMIM190160
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121918692(G;G)
Alt rs121918692(G;G)
Reference Rs121918692(A;A)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.24164434T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013378.24,