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rs1057516779

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516779(A;A)
Make rs1057516779(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23339781
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516779
dbSNP (old)rs1057516779
ClinGenrs1057516779
ebirs1057516779
HLIrs1057516779
Exacrs1057516779
Gnomadrs1057516779
Varsomers1057516779
Maprs1057516779
PheGenIrs1057516779
Biobankrs1057516779
1000 genomesrs1057516779
hgdprs1057516779
ensemblrs1057516779
gopubmedrs1057516779
geneviewrs1057516779
scholarrs1057516779
googlers1057516779
pharmgkbrs1057516779
gwascentralrs1057516779
openSNPrs1057516779
23andMers1057516779
23andMe allrs1057516779
SNPshotrs1057516779
SNPdbers1057516779
MSV3drs1057516779
GWAS Ctlgrs1057516779
Max Magnitude0
ClinVar
Risk rs1057516779(A;A)
Alt rs1057516779(A;A)
Reference Rs1057516779(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.23913920C>T
CLNSRC
CLNACC RCV000412449.1,