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rs35916840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35916840(C;T)
Make rs35916840(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position63064208
GeneTTPA
is asnp
is mentioned by
dbSNPrs35916840
ebirs35916840
HLIrs35916840
Exacrs35916840
Varsomers35916840
Maprs35916840
PheGenIrs35916840
hapmaprs35916840
1000 genomesrs35916840
hgdprs35916840
ensemblrs35916840
gopubmedrs35916840
geneviewrs35916840
scholarrs35916840
googlers35916840
pharmgkbrs35916840
gwascentralrs35916840
openSNPrs35916840
23andMers35916840
23andMe allrs35916840
SNP Nexus

SNPshotrs35916840
SNPdbers35916840
MSV3drs35916840
GWAS Ctlgrs35916840
Max Magnitude0
ClinVar
Risk rs35916840(T;T)
Alt rs35916840(T;T)
Reference rs35916840(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.63976767G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000055804.1,