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rs121917850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121917850(A;A)
Make rs121917850(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position63064294
GeneTTPA
is asnp
is mentioned by
dbSNPrs121917850
ebirs121917850
HLIrs121917850
Exacrs121917850
Varsomers121917850
Maprs121917850
PheGenIrs121917850
hapmaprs121917850
1000 genomesrs121917850
hgdprs121917850
ensemblrs121917850
gopubmedrs121917850
geneviewrs121917850
scholarrs121917850
googlers121917850
pharmgkbrs121917850
gwascentralrs121917850
openSNPrs121917850
23andMers121917850
23andMe allrs121917850
SNP Nexus

SNPshotrs121917850
SNPdbers121917850
MSV3drs121917850
GWAS Ctlgrs121917850
Merged fromRs28936369
Max Magnitude0
ClinVar
Risk rs121917850(A;A)
Alt rs121917850(A;A)
Reference rs121917850(G;G)
Significance Pathogenic
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.63976853C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009711.4, RCV000055803.1,