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rs1057517297

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517297(-;-)
Make rs1057517297(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338497
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517297
dbSNP (old)rs1057517297
ClinGenrs1057517297
ebirs1057517297
HLIrs1057517297
Exacrs1057517297
Gnomadrs1057517297
Varsomers1057517297
Maprs1057517297
PheGenIrs1057517297
Biobankrs1057517297
1000 genomesrs1057517297
hgdprs1057517297
ensemblrs1057517297
gopubmedrs1057517297
geneviewrs1057517297
scholarrs1057517297
googlers1057517297
pharmgkbrs1057517297
gwascentralrs1057517297
openSNPrs1057517297
23andMers1057517297
23andMe allrs1057517297
SNP Nexus

SNPshotrs1057517297
SNPdbers1057517297
MSV3drs1057517297
GWAS Ctlgrs1057517297
Max Magnitude0
ClinVar
Risk rs1057517297(-;-)
Alt rs1057517297(-;-)
Reference Rs1057517297(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.23912636delA
CLNSRC
CLNACC RCV000412471.1,