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rs1057516987

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516987(-;A)
Make rs1057516987(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23355474
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516987
dbSNP (old)rs1057516987
ClinGenrs1057516987
ebirs1057516987
HLIrs1057516987
Exacrs1057516987
Gnomadrs1057516987
Varsomers1057516987
Maprs1057516987
PheGenIrs1057516987
Biobankrs1057516987
1000 genomesrs1057516987
hgdprs1057516987
ensemblrs1057516987
gopubmedrs1057516987
geneviewrs1057516987
scholarrs1057516987
googlers1057516987
pharmgkbrs1057516987
gwascentralrs1057516987
openSNPrs1057516987
23andMers1057516987
23andMe allrs1057516987
SNP Nexus

SNPshotrs1057516987
SNPdbers1057516987
MSV3drs1057516987
GWAS Ctlgrs1057516987
Max Magnitude0
ClinVar
Risk rs1057516987(A;A)
Alt rs1057516987(A;A)
Reference Rs1057516987(-;-)
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.23929614dupT
CLNSRC
CLNACC RCV000411406.1,