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rs121918707

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918707(C;T)
Make rs121918707(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position24143512
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918707
dbSNP (classic)rs121918707
ClinGenrs121918707
ebirs121918707
HLIrs121918707
Exacrs121918707
Gnomadrs121918707
Varsomers121918707
LitVarrs121918707
Maprs121918707
PheGenIrs121918707
Biobankrs121918707
1000 genomesrs121918707
hgdprs121918707
ensemblrs121918707
geneviewrs121918707
scholarrs121918707
googlers121918707
pharmgkbrs121918707
gwascentralrs121918707
openSNPrs121918707
23andMers121918707
SNPshotrs121918707
SNPdbers121918707
MSV3drs121918707
GWAS Ctlgrs121918707
Max Magnitude0
OMIM190160
Desc
Variant0038
Relatedalso
ClinVar
Risk rs121918707(T;T)
Alt rs121918707(T;T)
Reference Rs121918707(C;C)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene LOC101927854 THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.24185003G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013395.23,