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rs1057516398

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516398(C;T)
Make rs1057516398(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23332691
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516398
dbSNP (old)rs1057516398
ClinGenrs1057516398
ebirs1057516398
HLIrs1057516398
Exacrs1057516398
Gnomadrs1057516398
Varsomers1057516398
Maprs1057516398
PheGenIrs1057516398
Biobankrs1057516398
1000 genomesrs1057516398
hgdprs1057516398
ensemblrs1057516398
gopubmedrs1057516398
geneviewrs1057516398
scholarrs1057516398
googlers1057516398
pharmgkbrs1057516398
gwascentralrs1057516398
openSNPrs1057516398
23andMers1057516398
23andMe allrs1057516398
SNP Nexus

SNPshotrs1057516398
SNPdbers1057516398
MSV3drs1057516398
GWAS Ctlgrs1057516398
Max Magnitude0
ClinVar
Risk rs1057516398(T;T)
Alt rs1057516398(T;T)
Reference Rs1057516398(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.23906830G>A
CLNSRC
CLNACC RCV000409109.1,