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rs121918689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ACA;ACA) 0 common in clinvar
Make rs121918689(-;-)
Make rs121918689(-;TGGCAGTGACA)
Make rs121918689(TGGCAGTGACA;TGGCAGTGACA)
ReferenceGRCh38 38.1/141
Chromosome3
Position24127632
GeneTHRB
is asnp
is mentioned by
dbSNPrs121918689
ebirs121918689
HLIrs121918689
Exacrs121918689
Varsomers121918689
Maprs121918689
PheGenIrs121918689
hapmaprs121918689
1000 genomesrs121918689
hgdprs121918689
ensemblrs121918689
gopubmedrs121918689
geneviewrs121918689
scholarrs121918689
googlers121918689
pharmgkbrs121918689
gwascentralrs121918689
openSNPrs121918689
23andMers121918689
23andMe allrs121918689
SNP Nexus

SNPshotrs121918689
SNPdbers121918689
MSV3drs121918689
GWAS Ctlgrs121918689
Max Magnitude0
OMIM190160
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918689(;)
Alt rs121918689(;)
Reference rs121918689(ACA;ACA)
Significance Pathogenic
Disease Thyroid hormone resistance
Variation info
Gene THRB
CLNDBN Thyroid hormone resistance, generalized, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.24169123_24169125delTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000013366.15,