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rs397515378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515378(-;-)
Make rs397515378(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63065970
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515378
ebirs397515378
HLIrs397515378
Exacrs397515378
Varsomers397515378
Maprs397515378
PheGenIrs397515378
hapmaprs397515378
1000 genomesrs397515378
hgdprs397515378
ensemblrs397515378
gopubmedrs397515378
geneviewrs397515378
scholarrs397515378
googlers397515378
pharmgkbrs397515378
gwascentralrs397515378
openSNPrs397515378
23andMers397515378
23andMe allrs397515378
SNP Nexus

SNPshotrs397515378
SNPdbers397515378
MSV3drs397515378
GWAS Ctlgrs397515378
Max Magnitude0
ClinVar
Risk rs397515378(;)
Alt rs397515378(;)
Reference rs397515378(T;T)
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.63978528delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000009709.2, RCV000169325.1,