Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516932

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516932(-;A)
Make rs1057516932(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23337118
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516932
dbSNP (old)rs1057516932
ClinGenrs1057516932
ebirs1057516932
HLIrs1057516932
Exacrs1057516932
Gnomadrs1057516932
Varsomers1057516932
Maprs1057516932
PheGenIrs1057516932
Biobankrs1057516932
1000 genomesrs1057516932
hgdprs1057516932
ensemblrs1057516932
gopubmedrs1057516932
geneviewrs1057516932
scholarrs1057516932
googlers1057516932
pharmgkbrs1057516932
gwascentralrs1057516932
openSNPrs1057516932
23andMers1057516932
23andMe allrs1057516932
SNPshotrs1057516932
SNPdbers1057516932
MSV3drs1057516932
GWAS Ctlgrs1057516932
Max Magnitude0
ClinVar
Risk rs1057516932(A;A)
Alt rs1057516932(A;A)
Reference Rs1057516932(-;-)
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.23911258dupT
CLNSRC
CLNACC RCV000409610.1,