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rs1057516959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516959(-;-)
Make rs1057516959(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336088
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516959
dbSNP (old)rs1057516959
ClinGenrs1057516959
ebirs1057516959
HLIrs1057516959
Exacrs1057516959
Gnomadrs1057516959
Varsomers1057516959
Maprs1057516959
PheGenIrs1057516959
Biobankrs1057516959
1000 genomesrs1057516959
hgdprs1057516959
ensemblrs1057516959
gopubmedrs1057516959
geneviewrs1057516959
scholarrs1057516959
googlers1057516959
pharmgkbrs1057516959
gwascentralrs1057516959
openSNPrs1057516959
23andMers1057516959
23andMe allrs1057516959
SNPshotrs1057516959
SNPdbers1057516959
MSV3drs1057516959
GWAS Ctlgrs1057516959
Max Magnitude0
ClinVar
Risk rs1057516959(-;-)
Alt rs1057516959(-;-)
Reference Rs1057516959(T;T)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23910227delA
CLNSRC
CLNACC RCV000409944.1,