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rs397515522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515522(C;T)
Make rs397515522(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63085847
GeneTTPA
is asnp
is mentioned by
dbSNPrs397515522
ebirs397515522
HLIrs397515522
Exacrs397515522
Varsomers397515522
Maprs397515522
PheGenIrs397515522
hapmaprs397515522
1000 genomesrs397515522
hgdprs397515522
ensemblrs397515522
gopubmedrs397515522
geneviewrs397515522
scholarrs397515522
googlers397515522
pharmgkbrs397515522
gwascentralrs397515522
openSNPrs397515522
23andMers397515522
23andMe allrs397515522
SNP Nexus

SNPshotrs397515522
SNPdbers397515522
MSV3drs397515522
GWAS Ctlgrs397515522
Max Magnitude0
ClinVar
Risk rs397515522(T;T)
Alt rs397515522(T;T)
Reference rs397515522(C;C)
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.63998406G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055793.1,