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rs797045937

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs797045937(-;-)
Make rs797045937(-;AC)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23354692
GeneSACS
is asnp
is mentioned by
dbSNPrs797045937
dbSNP (classic)rs797045937
ClinGenrs797045937
ebirs797045937
HLIrs797045937
Exacrs797045937
Gnomadrs797045937
Varsomers797045937
LitVarrs797045937
Maprs797045937
PheGenIrs797045937
Biobankrs797045937
1000 genomesrs797045937
hgdprs797045937
ensemblrs797045937
geneviewrs797045937
scholarrs797045937
googlers797045937
pharmgkbrs797045937
gwascentralrs797045937
openSNPrs797045937
23andMers797045937
SNPshotrs797045937
SNPdbers797045937
MSV3drs797045937
GWAS Ctlgrs797045937
Max Magnitude0
ClinVar
Risk rs797045937(-;-)
Alt rs797045937(-;-)
Reference Rs797045937(AC;AC)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23928831_23928832delGT
CLNSRC
CLNACC RCV000192515.1,