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rs397515379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397515379(-;-)
Make rs397515379(-;TT)
Make rs397515379(TT;TT)
ReferenceGRCh38 38.1/141
Chromosome8
Position63065942
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515379
ebirs397515379
HLIrs397515379
Exacrs397515379
Varsomers397515379
Maprs397515379
PheGenIrs397515379
hapmaprs397515379
1000 genomesrs397515379
hgdprs397515379
ensemblrs397515379
gopubmedrs397515379
geneviewrs397515379
scholarrs397515379
googlers397515379
pharmgkbrs397515379
gwascentralrs397515379
openSNPrs397515379
23andMers397515379
23andMe allrs397515379
SNP Nexus

SNPshotrs397515379
SNPdbers397515379
MSV3drs397515379
GWAS Ctlgrs397515379
Max Magnitude0
ClinVar
Risk rs397515379(TT;TT)
Alt rs397515379(TT;TT)
Reference rs397515379(;)
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.63978501_63978502insAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009710.2, RCV000055800.2,