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rs1057516578

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516578(C;T)
Make rs1057516578(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23333012
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516578
dbSNP (old)rs1057516578
ClinGenrs1057516578
ebirs1057516578
HLIrs1057516578
Exacrs1057516578
Gnomadrs1057516578
Varsomers1057516578
Maprs1057516578
PheGenIrs1057516578
Biobankrs1057516578
1000 genomesrs1057516578
hgdprs1057516578
ensemblrs1057516578
gopubmedrs1057516578
geneviewrs1057516578
scholarrs1057516578
googlers1057516578
pharmgkbrs1057516578
gwascentralrs1057516578
openSNPrs1057516578
23andMers1057516578
23andMe allrs1057516578
SNPshotrs1057516578
SNPdbers1057516578
MSV3drs1057516578
GWAS Ctlgrs1057516578
Max Magnitude0
ClinVar
Risk rs1057516578(T;T)
Alt rs1057516578(T;T)
Reference Rs1057516578(C;C)
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.23907151G>A
CLNSRC
CLNACC RCV000412194.1,