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rs28933408

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933408(A;A)
Make rs28933408(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position24122913
GeneTHRB
is asnp
is mentioned by
dbSNPrs28933408
dbSNP (classic)rs28933408
ClinGenrs28933408
ebirs28933408
HLIrs28933408
Exacrs28933408
Gnomadrs28933408
Varsomers28933408
LitVarrs28933408
Maprs28933408
PheGenIrs28933408
Biobankrs28933408
1000 genomesrs28933408
hgdprs28933408
ensemblrs28933408
geneviewrs28933408
scholarrs28933408
googlers28933408
pharmgkbrs28933408
gwascentralrs28933408
openSNPrs28933408
23andMers28933408
SNPshotrs28933408
SNPdbers28933408
MSV3drs28933408
GWAS Ctlgrs28933408
Max Magnitude0
OMIM190160
DescTHYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
Variant0012
Relatedalso


ClinVar
Risk rs28933408(A;A) Rs28933408(G;G)
Alt rs28933408(A;A) Rs28933408(G;G)
Reference Rs28933408(C;C)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal dominant
Reversed 1
HGVS NC_000003.11:g.24164404G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013377.23,