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rs1057516624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516624(-;-)
Make rs1057516624(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23341006
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516624
dbSNP (old)rs1057516624
ClinGenrs1057516624
ebirs1057516624
HLIrs1057516624
Exacrs1057516624
Gnomadrs1057516624
Varsomers1057516624
LitVarrs1057516624
Maprs1057516624
PheGenIrs1057516624
Biobankrs1057516624
1000 genomesrs1057516624
hgdprs1057516624
ensemblrs1057516624
gopubmedrs1057516624
geneviewrs1057516624
scholarrs1057516624
googlers1057516624
pharmgkbrs1057516624
gwascentralrs1057516624
openSNPrs1057516624
23andMers1057516624
23andMe allrs1057516624
SNPshotrs1057516624
SNPdbers1057516624
MSV3drs1057516624
GWAS Ctlgrs1057516624
Max Magnitude0
ClinVar
Risk rs1057516624(-;-)
Alt rs1057516624(-;-)
Reference Rs1057516624(C;C)
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.23915145delG
CLNSRC
CLNACC RCV000411525.1,