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rs28999970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28999970(G;T)
Make rs28999970(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127609
GeneTHRB
is asnp
is mentioned by
dbSNPrs28999970
ebirs28999970
HLIrs28999970
Exacrs28999970
Varsomers28999970
Maprs28999970
PheGenIrs28999970
hapmaprs28999970
1000 genomesrs28999970
hgdprs28999970
ensemblrs28999970
gopubmedrs28999970
geneviewrs28999970
scholarrs28999970
googlers28999970
pharmgkbrs28999970
gwascentralrs28999970
openSNPrs28999970
23andMers28999970
23andMe allrs28999970
SNP Nexus

SNPshotrs28999970
SNPdbers28999970
MSV3drs28999970
GWAS Ctlgrs28999970
Max Magnitude0
OMIM190160
DescTHYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant0008
Relatedalso
Neighborrs28999969
Distance40
Neighborrs28999971
Distance7
ClinVar
Risk rs28999970(A,T;A,T)
Alt rs28999970(A,T;A,T)
Reference rs28999970(G;G)
Significance Pathogenic
Disease Thyroid hormone resistance Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant Thyroid hormone resistance, generalized
Reversed 1
HGVS NC_000003.11:g.24169100C>A; NC_000003.11:g.24169100C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013372.23, RCV000013371.23,