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rs397515523

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515523(A;G)
Make rs397515523(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position63085831
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515523
ebirs397515523
HLIrs397515523
Exacrs397515523
Varsomers397515523
Maprs397515523
PheGenIrs397515523
hapmaprs397515523
1000 genomesrs397515523
hgdprs397515523
ensemblrs397515523
gopubmedrs397515523
geneviewrs397515523
scholarrs397515523
googlers397515523
pharmgkbrs397515523
gwascentralrs397515523
openSNPrs397515523
23andMers397515523
23andMe allrs397515523
SNP Nexus

SNPshotrs397515523
SNPdbers397515523
MSV3drs397515523
GWAS Ctlgrs397515523
Max Magnitude0
ClinVar
Risk rs397515523(G;G)
Alt rs397515523(G;G)
Reference rs397515523(A;A)
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.63998390T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000055794.1,