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rs28999971

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28999971(A;A)
Make rs28999971(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127603
GeneTHRB
is asnp
is mentioned by
dbSNPrs28999971
ebirs28999971
HLIrs28999971
Exacrs28999971
Varsomers28999971
Maprs28999971
PheGenIrs28999971
hapmaprs28999971
1000 genomesrs28999971
hgdprs28999971
ensemblrs28999971
gopubmedrs28999971
geneviewrs28999971
scholarrs28999971
googlers28999971
pharmgkbrs28999971
gwascentralrs28999971
openSNPrs28999971
23andMers28999971
23andMe allrs28999971
SNP Nexus

SNPshotrs28999971
SNPdbers28999971
MSV3drs28999971
GWAS Ctlgrs28999971
Max Magnitude0
OMIM190160
DescTHYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant0009
Relatedalso
Neighborrs28999970
Distance7
ClinVar
Risk rs28999971(A;A)
Alt rs28999971(A;A)
Reference rs28999971(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.24169094C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013373.22,