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rs121918695

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918695(A;A)
Make rs121918695(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127696
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918695
dbSNP (classic)rs121918695
ClinGenrs121918695
ebirs121918695
HLIrs121918695
Exacrs121918695
Gnomadrs121918695
Varsomers121918695
LitVarrs121918695
Maprs121918695
PheGenIrs121918695
Biobankrs121918695
1000 genomesrs121918695
hgdprs121918695
ensemblrs121918695
geneviewrs121918695
scholarrs121918695
googlers121918695
pharmgkbrs121918695
gwascentralrs121918695
openSNPrs121918695
23andMers121918695
SNPshotrs121918695
SNPdbers121918695
MSV3drs121918695
GWAS Ctlgrs121918695
Max Magnitude0
OMIM190160
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121918695(A;A)
Alt rs121918695(A;A)
Reference Rs121918695(G;G)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, selective pituitary
Reversed 1
HGVS NC_000003.11:g.24169187C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013382.24,