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rs1057516423

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516423(A;T)
Make rs1057516423(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position63072980
GeneTTPA
is asnp
is mentioned by
dbSNPrs1057516423
dbSNP (old)rs1057516423
ClinGenrs1057516423
ebirs1057516423
HLIrs1057516423
Exacrs1057516423
Gnomadrs1057516423
Varsomers1057516423
Maprs1057516423
PheGenIrs1057516423
Biobankrs1057516423
1000 genomesrs1057516423
hgdprs1057516423
ensemblrs1057516423
gopubmedrs1057516423
geneviewrs1057516423
scholarrs1057516423
googlers1057516423
pharmgkbrs1057516423
gwascentralrs1057516423
openSNPrs1057516423
23andMers1057516423
23andMe allrs1057516423
SNPshotrs1057516423
SNPdbers1057516423
MSV3drs1057516423
GWAS Ctlgrs1057516423
Max Magnitude0
ClinVar
Risk rs1057516423(T;T)
Alt rs1057516423(T;T)
Reference Rs1057516423(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.63985539T>A
CLNSRC
CLNACC RCV000410232.1,