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rs397515526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515526(C;C)
Make rs397515526(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position63061353
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515526
ebirs397515526
HLIrs397515526
Exacrs397515526
Varsomers397515526
Maprs397515526
PheGenIrs397515526
hapmaprs397515526
1000 genomesrs397515526
hgdprs397515526
ensemblrs397515526
gopubmedrs397515526
geneviewrs397515526
scholarrs397515526
googlers397515526
pharmgkbrs397515526
gwascentralrs397515526
openSNPrs397515526
23andMers397515526
23andMe allrs397515526
SNP Nexus

SNPshotrs397515526
SNPdbers397515526
MSV3drs397515526
GWAS Ctlgrs397515526
Max Magnitude0
ClinVar
Risk rs397515526(C;C)
Alt rs397515526(C;C)
Reference rs397515526(G;G)
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.63973912C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000055805.1,