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rs1057516295

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516295(-;-)
Make rs1057516295(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23337556
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516295
dbSNP (old)rs1057516295
ClinGenrs1057516295
ebirs1057516295
HLIrs1057516295
Exacrs1057516295
Gnomadrs1057516295
Varsomers1057516295
Maprs1057516295
PheGenIrs1057516295
Biobankrs1057516295
1000 genomesrs1057516295
hgdprs1057516295
ensemblrs1057516295
gopubmedrs1057516295
geneviewrs1057516295
scholarrs1057516295
googlers1057516295
pharmgkbrs1057516295
gwascentralrs1057516295
openSNPrs1057516295
23andMers1057516295
23andMe allrs1057516295
SNP Nexus

SNPshotrs1057516295
SNPdbers1057516295
MSV3drs1057516295
GWAS Ctlgrs1057516295
Max Magnitude0
ClinVar
Risk rs1057516295(-;-)
Alt rs1057516295(-;-)
Reference Rs1057516295(T;T)
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.23911695delA
CLNSRC
CLNACC RCV000410468.1,