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rs1057516543

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516543(-;-)
Make rs1057516543(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23354931
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516543
dbSNP (old)rs1057516543
ClinGenrs1057516543
ebirs1057516543
HLIrs1057516543
Exacrs1057516543
Gnomadrs1057516543
Varsomers1057516543
LitVarrs1057516543
Maprs1057516543
PheGenIrs1057516543
Biobankrs1057516543
1000 genomesrs1057516543
hgdprs1057516543
ensemblrs1057516543
gopubmedrs1057516543
geneviewrs1057516543
scholarrs1057516543
googlers1057516543
pharmgkbrs1057516543
gwascentralrs1057516543
openSNPrs1057516543
23andMers1057516543
23andMe allrs1057516543
SNPshotrs1057516543
SNPdbers1057516543
MSV3drs1057516543
GWAS Ctlgrs1057516543
Max Magnitude0
ClinVar
Risk rs1057516543(-;-)
Alt rs1057516543(-;-)
Reference Rs1057516543(G;G)
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.23929070delC
CLNSRC
CLNACC RCV000410889.1,