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rs397515525

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515525(C;C)
Make rs397515525(C;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63065908
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515525
ebirs397515525
HLIrs397515525
Exacrs397515525
Varsomers397515525
Maprs397515525
PheGenIrs397515525
hapmaprs397515525
1000 genomesrs397515525
hgdprs397515525
ensemblrs397515525
gopubmedrs397515525
geneviewrs397515525
scholarrs397515525
googlers397515525
pharmgkbrs397515525
gwascentralrs397515525
openSNPrs397515525
23andMers397515525
23andMe allrs397515525
SNP Nexus

SNPshotrs397515525
SNPdbers397515525
MSV3drs397515525
GWAS Ctlgrs397515525
Max Magnitude0
ClinVar
Risk rs397515525(C;C)
Alt rs397515525(C;C)
Reference rs397515525(T;T)
Significance Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63978467A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000055802.1,