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

rs121917719

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917719(C;T)
Make rs121917719(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position113246802
GenePAX8
is asnp
is mentioned by
dbSNPrs121917719
ebirs121917719
HLIrs121917719
Exacrs121917719
Varsomers121917719
Maprs121917719
PheGenIrs121917719
hapmaprs121917719
1000 genomesrs121917719
hgdprs121917719
ensemblrs121917719
gopubmedrs121917719
geneviewrs121917719
scholarrs121917719
googlers121917719
pharmgkbrs121917719
gwascentralrs121917719
openSNPrs121917719
23andMers121917719
23andMe allrs121917719
SNP Nexus

SNPshotrs121917719
SNPdbers121917719
MSV3drs121917719
GWAS Ctlgrs121917719
Max Magnitude0
OMIM167415
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121917719(T;T)
Alt rs121917719(T;T)
Reference Rs121917719(C;C)
Significance Pathogenic
Disease Thyroid agenesis
Variation info
Gene PAX8 PAX8-AS1
CLNDBN Thyroid agenesis
Reversed 1
HGVS NC_000002.11:g.114004379G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014799.25,