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rs565203731

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs565203731(A;A)
Make rs565203731(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23332502
GeneSACS
is asnp
is mentioned by
dbSNPrs565203731
dbSNP (classic)rs565203731
ClinGenrs565203731
ebirs565203731
HLIrs565203731
Exacrs565203731
Gnomadrs565203731
Varsomers565203731
LitVarrs565203731
Maprs565203731
PheGenIrs565203731
Biobankrs565203731
1000 genomesrs565203731
hgdprs565203731
ensemblrs565203731
geneviewrs565203731
scholarrs565203731
googlers565203731
pharmgkbrs565203731
gwascentralrs565203731
openSNPrs565203731
23andMers565203731
SNPshotrs565203731
SNPdbers565203731
MSV3drs565203731
GWAS Ctlgrs565203731
Max Magnitude0
ClinVar
Risk rs565203731(A;A) rs565203731(C;C)
Alt rs565203731(A;A) rs565203731(C;C)
Reference Rs565203731(G;G)
Significance Probable-Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23906641G>A
CLNSRC
CLNACC RCV000411243.1,