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rs1057517448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517448(-;-)
Make rs1057517448(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63066015
GeneTTPA
is asnp
is mentioned by
dbSNPrs1057517448
dbSNP (old)rs1057517448
ClinGenrs1057517448
ebirs1057517448
HLIrs1057517448
Exacrs1057517448
Gnomadrs1057517448
Varsomers1057517448
Maprs1057517448
PheGenIrs1057517448
Biobankrs1057517448
1000 genomesrs1057517448
hgdprs1057517448
ensemblrs1057517448
gopubmedrs1057517448
geneviewrs1057517448
scholarrs1057517448
googlers1057517448
pharmgkbrs1057517448
gwascentralrs1057517448
openSNPrs1057517448
23andMers1057517448
23andMe allrs1057517448
SNPshotrs1057517448
SNPdbers1057517448
MSV3drs1057517448
GWAS Ctlgrs1057517448
Max Magnitude0
ClinVar
Risk rs1057517448(-;-)
Alt rs1057517448(-;-)
Reference Rs1057517448(A;A)
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.63978574delT
CLNSRC
CLNACC RCV000410520.1,