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

rs121917851

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917851(C;T)
Make rs121917851(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63066056
GeneTTPA
is asnp
is mentioned by
dbSNPrs121917851
ebirs121917851
HLIrs121917851
Exacrs121917851
Varsomers121917851
Maprs121917851
PheGenIrs121917851
hapmaprs121917851
1000 genomesrs121917851
hgdprs121917851
ensemblrs121917851
gopubmedrs121917851
geneviewrs121917851
scholarrs121917851
googlers121917851
pharmgkbrs121917851
gwascentralrs121917851
openSNPrs121917851
23andMers121917851
23andMe allrs121917851
SNP Nexus

SNPshotrs121917851
SNPdbers121917851
MSV3drs121917851
GWAS Ctlgrs121917851
Max Magnitude0
ClinVar
Risk rs121917851(T;T)
Alt rs121917851(T;T)
Reference rs121917851(C;C)
Significance Other
Disease Ataxia Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia, Friedreich-like, with isolated vitamin E deficiency Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63978615G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009712.2, RCV000055797.3,