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rs397515524

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515524(A;A)
Make rs397515524(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position63066035
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515524
ebirs397515524
HLIrs397515524
Exacrs397515524
Varsomers397515524
Maprs397515524
PheGenIrs397515524
hapmaprs397515524
1000 genomesrs397515524
hgdprs397515524
ensemblrs397515524
gopubmedrs397515524
geneviewrs397515524
scholarrs397515524
googlers397515524
pharmgkbrs397515524
gwascentralrs397515524
openSNPrs397515524
23andMers397515524
23andMe allrs397515524
SNP Nexus

SNPshotrs397515524
SNPdbers397515524
MSV3drs397515524
GWAS Ctlgrs397515524
Max Magnitude0
ClinVar
Risk rs397515524(A;A)
Alt rs397515524(A;A)
Reference rs397515524(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.63978594C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000055798.1,