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rs797045936

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045936(-;A)
Make rs797045936(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23330348
GeneSACS
is asnp
is mentioned by
dbSNPrs797045936
ClinGenrs797045936
ebirs797045936
HLIrs797045936
Exacrs797045936
Varsomers797045936
Maprs797045936
PheGenIrs797045936
hapmaprs797045936
1000 genomesrs797045936
hgdprs797045936
ensemblrs797045936
gopubmedrs797045936
geneviewrs797045936
scholarrs797045936
googlers797045936
pharmgkbrs797045936
gwascentralrs797045936
openSNPrs797045936
23andMers797045936
23andMe allrs797045936
SNP Nexus

SNPshotrs797045936
SNPdbers797045936
MSV3drs797045936
GWAS Ctlgrs797045936
Max Magnitude0
ClinVar
Risk rs797045936(A;A)
Alt rs797045936(A;A)
Reference Rs797045936(;)
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.23904488dupT
CLNSRC
CLNACC RCV000194514.1,