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rs1057516689

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516689(-;-)
Make rs1057516689(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336737
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516689
dbSNP (old)rs1057516689
ClinGenrs1057516689
ebirs1057516689
HLIrs1057516689
Exacrs1057516689
Gnomadrs1057516689
Varsomers1057516689
Maprs1057516689
PheGenIrs1057516689
Biobankrs1057516689
1000 genomesrs1057516689
hgdprs1057516689
ensemblrs1057516689
gopubmedrs1057516689
geneviewrs1057516689
scholarrs1057516689
googlers1057516689
pharmgkbrs1057516689
gwascentralrs1057516689
openSNPrs1057516689
23andMers1057516689
23andMe allrs1057516689
SNPshotrs1057516689
SNPdbers1057516689
MSV3drs1057516689
GWAS Ctlgrs1057516689
Max Magnitude0
ClinVar
Risk rs1057516689(-;-)
Alt rs1057516689(-;-)
Reference Rs1057516689(A;A)
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.23910876delT
CLNSRC
CLNACC RCV000408983.1,