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rs1057516347

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516347(-;-)
Make rs1057516347(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23331336
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516347
dbSNP (old)rs1057516347
ClinGenrs1057516347
ebirs1057516347
HLIrs1057516347
Exacrs1057516347
Gnomadrs1057516347
Varsomers1057516347
LitVarrs1057516347
Maprs1057516347
PheGenIrs1057516347
Biobankrs1057516347
1000 genomesrs1057516347
hgdprs1057516347
ensemblrs1057516347
gopubmedrs1057516347
geneviewrs1057516347
scholarrs1057516347
googlers1057516347
pharmgkbrs1057516347
gwascentralrs1057516347
openSNPrs1057516347
23andMers1057516347
23andMe allrs1057516347
SNPshotrs1057516347
SNPdbers1057516347
MSV3drs1057516347
GWAS Ctlgrs1057516347
Max Magnitude0
ClinVar
Risk rs1057516347(-;-)
Alt rs1057516347(-;-)
Reference Rs1057516347(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.23905475delT
CLNSRC
CLNACC RCV000412310.1,