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rs1057516224

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516224(-;-)
Make rs1057516224(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23354536
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516224
dbSNP (old)rs1057516224
ClinGenrs1057516224
ebirs1057516224
HLIrs1057516224
Exacrs1057516224
Gnomadrs1057516224
Varsomers1057516224
LitVarrs1057516224
Maprs1057516224
PheGenIrs1057516224
Biobankrs1057516224
1000 genomesrs1057516224
hgdprs1057516224
ensemblrs1057516224
gopubmedrs1057516224
geneviewrs1057516224
scholarrs1057516224
googlers1057516224
pharmgkbrs1057516224
gwascentralrs1057516224
openSNPrs1057516224
23andMers1057516224
23andMe allrs1057516224
SNPshotrs1057516224
SNPdbers1057516224
MSV3drs1057516224
GWAS Ctlgrs1057516224
Max Magnitude0
ClinVar
Risk rs1057516224(-;-)
Alt rs1057516224(-;-)
Reference Rs1057516224(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.23928675delG
CLNSRC
CLNACC RCV000411780.1,