Have questions? Visit https://www.reddit.com/r/SNPedia

rs387906515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAC;CAC) 0 common in clinvar
Make rs387906515(-;-)
Make rs387906515(-;CAC)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127631
GeneTHRB
is asnp
is mentioned by
dbSNPrs387906515
dbSNP (classic)rs387906515
ClinGenrs387906515
ebirs387906515
HLIrs387906515
Exacrs387906515
Gnomadrs387906515
Varsomers387906515
LitVarrs387906515
Maprs387906515
PheGenIrs387906515
Biobankrs387906515
1000 genomesrs387906515
hgdprs387906515
ensemblrs387906515
geneviewrs387906515
scholarrs387906515
googlers387906515
pharmgkbrs387906515
gwascentralrs387906515
openSNPrs387906515
23andMers387906515
SNPshotrs387906515
SNPdbers387906515
MSV3drs387906515
GWAS Ctlgrs387906515
Max Magnitude0
ClinVar
Risk rs387906515(-;-)
Alt rs387906515(-;-)
Reference Rs387906515(CAC;CAC)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.24169122_24169124delGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000013366.16,