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rs1057516635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAGTT;CAGTT) 0 common in clinvar
Make rs1057516635(-;-)
Make rs1057516635(-;CAGTT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23337424
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516635
dbSNP (old)rs1057516635
ClinGenrs1057516635
ebirs1057516635
HLIrs1057516635
Exacrs1057516635
Gnomadrs1057516635
Varsomers1057516635
LitVarrs1057516635
Maprs1057516635
PheGenIrs1057516635
Biobankrs1057516635
1000 genomesrs1057516635
hgdprs1057516635
ensemblrs1057516635
gopubmedrs1057516635
geneviewrs1057516635
scholarrs1057516635
googlers1057516635
pharmgkbrs1057516635
gwascentralrs1057516635
openSNPrs1057516635
23andMers1057516635
23andMe allrs1057516635
SNPshotrs1057516635
SNPdbers1057516635
MSV3drs1057516635
GWAS Ctlgrs1057516635
Max Magnitude0
ClinVar
Risk rs1057516635(-;-)
Alt rs1057516635(-;-)
Reference Rs1057516635(CAGTT;CAGTT)
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.23911563_23911567delAACTG
CLNSRC
CLNACC RCV000411320.1,