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rs1057517039

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517039(-;-)
Make rs1057517039(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23340520
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517039
dbSNP (old)rs1057517039
ClinGenrs1057517039
ebirs1057517039
HLIrs1057517039
Exacrs1057517039
Gnomadrs1057517039
Varsomers1057517039
Maprs1057517039
PheGenIrs1057517039
Biobankrs1057517039
1000 genomesrs1057517039
hgdprs1057517039
ensemblrs1057517039
gopubmedrs1057517039
geneviewrs1057517039
scholarrs1057517039
googlers1057517039
pharmgkbrs1057517039
gwascentralrs1057517039
openSNPrs1057517039
23andMers1057517039
23andMe allrs1057517039
SNP Nexus

SNPshotrs1057517039
SNPdbers1057517039
MSV3drs1057517039
GWAS Ctlgrs1057517039
Max Magnitude0
ClinVar
Risk rs1057517039(-;-)
Alt rs1057517039(-;-)
Reference Rs1057517039(C;C)
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.23914659delG
CLNSRC
CLNACC RCV000412109.1,