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rs28999969

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28999969(A;A)
Make rs28999969(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127649
GeneTHRB
is asnp
is mentioned by
dbSNPrs28999969
ebirs28999969
HLIrs28999969
Exacrs28999969
Varsomers28999969
Maprs28999969
PheGenIrs28999969
hapmaprs28999969
1000 genomesrs28999969
hgdprs28999969
ensemblrs28999969
gopubmedrs28999969
geneviewrs28999969
scholarrs28999969
googlers28999969
pharmgkbrs28999969
gwascentralrs28999969
openSNPrs28999969
23andMers28999969
23andMe allrs28999969
SNP Nexus

SNPshotrs28999969
SNPdbers28999969
MSV3drs28999969
GWAS Ctlgrs28999969
Max Magnitude0
OMIM190160
DescTHYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant0007
Relatedalso
Neighborrs28999970
Distance40
ClinVar
Risk rs28999969(A;A)
Alt rs28999969(A;A)
Reference rs28999969(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.24169140C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013370.22,