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rs1057516554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516554(A;G)
Make rs1057516554(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23341692
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516554
dbSNP (classic)rs1057516554
ClinGenrs1057516554
ebirs1057516554
HLIrs1057516554
Exacrs1057516554
Gnomadrs1057516554
Varsomers1057516554
LitVarrs1057516554
Maprs1057516554
PheGenIrs1057516554
Biobankrs1057516554
1000 genomesrs1057516554
hgdprs1057516554
ensemblrs1057516554
geneviewrs1057516554
scholarrs1057516554
googlers1057516554
pharmgkbrs1057516554
gwascentralrs1057516554
openSNPrs1057516554
23andMers1057516554
23andMe allrs1057516554
SNPshotrs1057516554
SNPdbers1057516554
MSV3drs1057516554
GWAS Ctlgrs1057516554
Max Magnitude0
ClinVar
Risk rs1057516554(G;G)
Alt rs1057516554(G;G)
Reference Rs1057516554(A;A)
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.23915831T>C
CLNSRC
CLNACC RCV000410645.1,