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rs780247476

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs780247476(A;A)
Make rs780247476(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position23332970
GeneSACS
is asnp
is mentioned by
dbSNPrs780247476
ebirs780247476
HLIrs780247476
Exacrs780247476
Varsomers780247476
Maprs780247476
PheGenIrs780247476
hapmaprs780247476
1000 genomesrs780247476
hgdprs780247476
ensemblrs780247476
gopubmedrs780247476
geneviewrs780247476
scholarrs780247476
googlers780247476
pharmgkbrs780247476
gwascentralrs780247476
openSNPrs780247476
23andMers780247476
23andMe allrs780247476
SNP Nexus

SNPshotrs780247476
SNPdbers780247476
MSV3drs780247476
GWAS Ctlgrs780247476
Max Magnitude0
ClinVar
Risk rs780247476(A;A)
Alt rs780247476(A;A)
Reference rs780247476(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.23907109G>A
CLNSRC
CLNACC RCV000192438.1,