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rs1057516391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516391(C;T)
Make rs1057516391(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63086009
GeneTTPA
is asnp
is mentioned by
dbSNPrs1057516391
dbSNP (old)rs1057516391
ClinGenrs1057516391
ebirs1057516391
HLIrs1057516391
Exacrs1057516391
Gnomadrs1057516391
Varsomers1057516391
LitVarrs1057516391
Maprs1057516391
PheGenIrs1057516391
Biobankrs1057516391
1000 genomesrs1057516391
hgdprs1057516391
ensemblrs1057516391
gopubmedrs1057516391
geneviewrs1057516391
scholarrs1057516391
googlers1057516391
pharmgkbrs1057516391
gwascentralrs1057516391
openSNPrs1057516391
23andMers1057516391
23andMe allrs1057516391
SNPshotrs1057516391
SNPdbers1057516391
MSV3drs1057516391
GWAS Ctlgrs1057516391
Max Magnitude0
ClinVar
Risk rs1057516391(T;T)
Alt rs1057516391(T;T)
Reference Rs1057516391(C;C)
Significance Probable-Pathogenic
Disease Ataxia with vitamin E deficiency
Variation info
Gene TTPA
CLNDBN Ataxia with vitamin E deficiency
Reversed 1
HGVS NC_000008.10:g.63998568G>A
CLNSRC
CLNACC RCV000410811.1,