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rs886040963

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886040963(G;T)
Make rs886040963(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome8
Position63073089
GeneTTPA
is asnp
is mentioned by
dbSNPrs886040963
dbSNP (classic)rs886040963
ClinGenrs886040963
ebirs886040963
HLIrs886040963
Exacrs886040963
Gnomadrs886040963
Varsomers886040963
LitVarrs886040963
Maprs886040963
PheGenIrs886040963
Biobankrs886040963
1000 genomesrs886040963
hgdprs886040963
ensemblrs886040963
geneviewrs886040963
scholarrs886040963
googlers886040963
pharmgkbrs886040963
gwascentralrs886040963
openSNPrs886040963
23andMers886040963
SNPshotrs886040963
SNPdbers886040963
MSV3drs886040963
GWAS Ctlgrs886040963
Max Magnitude0
ClinVar
Risk rs886040963(C;C) rs886040963(T;T)
Alt rs886040963(C;C) rs886040963(T;T)
Reference Rs886040963(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.63985648C>A; NC_000008.10:g.63985648C>G
CLNSRC
CLNACC RCV000258013.1, RCV000411832.1,