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rs121918697

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918697(C;T)
Make rs121918697(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127631
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918697
ebirs121918697
HLIrs121918697
Exacrs121918697
Varsomers121918697
Maprs121918697
PheGenIrs121918697
hapmaprs121918697
1000 genomesrs121918697
hgdprs121918697
ensemblrs121918697
gopubmedrs121918697
geneviewrs121918697
scholarrs121918697
googlers121918697
pharmgkbrs121918697
gwascentralrs121918697
openSNPrs121918697
23andMers121918697
23andMe allrs121918697
SNP Nexus

SNPshotrs121918697
SNPdbers121918697
MSV3drs121918697
GWAS Ctlgrs121918697
Max Magnitude0
OMIM190160
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121918697(T;T)
Alt rs121918697(T;T)
Reference rs121918697(C;C)
Significance Pathogenic
Disease Thyroid hormone resistance Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant Thyroid hormone resistance, selective pituitary
Reversed 1
HGVS NC_000003.11:g.24169122G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013385.22, RCV000013386.23,