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rs148297332

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs148297332(A;A)
Make rs148297332(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome13
Position23331848
GeneSACS
is asnp
is mentioned by
dbSNPrs148297332
dbSNP (old)rs148297332
ClinGenrs148297332
ebirs148297332
HLIrs148297332
Exacrs148297332
Gnomadrs148297332
Varsomers148297332
LitVarrs148297332
Maprs148297332
PheGenIrs148297332
Biobankrs148297332
1000 genomesrs148297332
hgdprs148297332
ensemblrs148297332
gopubmedrs148297332
geneviewrs148297332
scholarrs148297332
googlers148297332
pharmgkbrs148297332
gwascentralrs148297332
openSNPrs148297332
23andMers148297332
23andMe allrs148297332
SNPshotrs148297332
SNPdbers148297332
MSV3drs148297332
GWAS Ctlgrs148297332
Max Magnitude0
ClinVar
Risk rs148297332(A;A)
Alt rs148297332(A;A)
Reference Rs148297332(G;G)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 0
HGVS NC_000013.10:g.23905987G>A
CLNSRC
CLNACC RCV000322018.1,