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rs886040964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886040964(A;A)
Make rs886040964(A;T)
ReferenceGRCh38.p7 38.3/149
Chromosome8
Position63065902
GeneTTPA
is asnp
is mentioned by
dbSNPrs886040964
dbSNP (classic)rs886040964
ClinGenrs886040964
ebirs886040964
HLIrs886040964
Exacrs886040964
Gnomadrs886040964
Varsomers886040964
LitVarrs886040964
Maprs886040964
PheGenIrs886040964
Biobankrs886040964
1000 genomesrs886040964
hgdprs886040964
ensemblrs886040964
geneviewrs886040964
scholarrs886040964
googlers886040964
pharmgkbrs886040964
gwascentralrs886040964
openSNPrs886040964
23andMers886040964
SNPshotrs886040964
SNPdbers886040964
MSV3drs886040964
GWAS Ctlgrs886040964
Max Magnitude0
ClinVar
Risk rs886040964(A;A)
Alt rs886040964(A;A)
Reference Rs886040964(T;T)
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.63978461A>T
CLNSRC
CLNACC RCV000258018.1,