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rs1057516773

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516773(-;-)
Make rs1057516773(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23333022
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516773
dbSNP (classic)rs1057516773
ClinGenrs1057516773
ebirs1057516773
HLIrs1057516773
Exacrs1057516773
Gnomadrs1057516773
Varsomers1057516773
LitVarrs1057516773
Maprs1057516773
PheGenIrs1057516773
Biobankrs1057516773
1000 genomesrs1057516773
hgdprs1057516773
ensemblrs1057516773
geneviewrs1057516773
scholarrs1057516773
googlers1057516773
pharmgkbrs1057516773
gwascentralrs1057516773
openSNPrs1057516773
23andMers1057516773
23andMe allrs1057516773
SNPshotrs1057516773
SNPdbers1057516773
MSV3drs1057516773
GWAS Ctlgrs1057516773
Max Magnitude0
ClinVar
Risk rs1057516773(-;-)
Alt rs1057516773(-;-)
Reference Rs1057516773(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.23907161delT
CLNSRC
CLNACC RCV000410993.1,