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rs1057516551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057516551(-;-)
Make rs1057516551(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23340680
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516551
dbSNP (old)rs1057516551
ClinGenrs1057516551
ebirs1057516551
HLIrs1057516551
Exacrs1057516551
Gnomadrs1057516551
Varsomers1057516551
LitVarrs1057516551
Maprs1057516551
PheGenIrs1057516551
Biobankrs1057516551
1000 genomesrs1057516551
hgdprs1057516551
ensemblrs1057516551
gopubmedrs1057516551
geneviewrs1057516551
scholarrs1057516551
googlers1057516551
pharmgkbrs1057516551
gwascentralrs1057516551
openSNPrs1057516551
23andMers1057516551
23andMe allrs1057516551
SNPshotrs1057516551
SNPdbers1057516551
MSV3drs1057516551
GWAS Ctlgrs1057516551
Max Magnitude0
ClinVar
Risk rs1057516551(-;-)
Alt rs1057516551(-;-)
Reference Rs1057516551(TT;TT)
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.23914819_23914820delAA
CLNSRC
CLNACC RCV000411216.1,