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rs797044608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044608(-;CA)
Make rs797044608(CA;CA)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23335026
GeneSACS
is asnp
is mentioned by
dbSNPrs797044608
ClinGenrs797044608
ebirs797044608
HLIrs797044608
Exacrs797044608
Varsomers797044608
Maprs797044608
PheGenIrs797044608
hapmaprs797044608
1000 genomesrs797044608
hgdprs797044608
ensemblrs797044608
gopubmedrs797044608
geneviewrs797044608
scholarrs797044608
googlers797044608
pharmgkbrs797044608
gwascentralrs797044608
openSNPrs797044608
23andMers797044608
23andMe allrs797044608
SNP Nexus

SNPshotrs797044608
SNPdbers797044608
MSV3drs797044608
GWAS Ctlgrs797044608
Max Magnitude0
ClinVar
Risk rs797044608(CA;CA)
Alt rs797044608(CA;CA)
Reference Rs797044608(-;-)
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.23909166_23909167dupTG
CLNSRC
CLNACC RCV000194102.1,