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rs1057516285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516285(-;-)
Make rs1057516285(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23339116
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516285
dbSNP (old)rs1057516285
ClinGenrs1057516285
ebirs1057516285
HLIrs1057516285
Exacrs1057516285
Gnomadrs1057516285
Varsomers1057516285
Maprs1057516285
PheGenIrs1057516285
Biobankrs1057516285
1000 genomesrs1057516285
hgdprs1057516285
ensemblrs1057516285
gopubmedrs1057516285
geneviewrs1057516285
scholarrs1057516285
googlers1057516285
pharmgkbrs1057516285
gwascentralrs1057516285
openSNPrs1057516285
23andMers1057516285
23andMe allrs1057516285
SNPshotrs1057516285
SNPdbers1057516285
MSV3drs1057516285
GWAS Ctlgrs1057516285
Max Magnitude0
ClinVar
Risk rs1057516285(-;-)
Alt rs1057516285(-;-)
Reference Rs1057516285(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.23913255delT
CLNSRC
CLNACC RCV000409566.1,