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rs863224916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224916(A;A)
Make rs863224916(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23332252
GeneSACS
is asnp
is mentioned by
dbSNPrs863224916
dbSNP (classic)rs863224916
ClinGenrs863224916
ebirs863224916
HLIrs863224916
Exacrs863224916
Gnomadrs863224916
Varsomers863224916
LitVarrs863224916
Maprs863224916
PheGenIrs863224916
Biobankrs863224916
1000 genomesrs863224916
hgdprs863224916
ensemblrs863224916
geneviewrs863224916
scholarrs863224916
googlers863224916
pharmgkbrs863224916
gwascentralrs863224916
openSNPrs863224916
23andMers863224916
SNPshotrs863224916
SNPdbers863224916
MSV3drs863224916
GWAS Ctlgrs863224916
Max Magnitude0
ClinVar
Risk rs863224916(A;A)
Alt rs863224916(A;A)
Reference Rs863224916(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.23906391C>T
CLNSRC
CLNACC RCV000197883.1,