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rs1057517138

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs1057517138(-;-)
Make rs1057517138(-;AT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338131
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517138
dbSNP (old)rs1057517138
ClinGenrs1057517138
ebirs1057517138
HLIrs1057517138
Exacrs1057517138
Gnomadrs1057517138
Varsomers1057517138
LitVarrs1057517138
Maprs1057517138
PheGenIrs1057517138
Biobankrs1057517138
1000 genomesrs1057517138
hgdprs1057517138
ensemblrs1057517138
gopubmedrs1057517138
geneviewrs1057517138
scholarrs1057517138
googlers1057517138
pharmgkbrs1057517138
gwascentralrs1057517138
openSNPrs1057517138
23andMers1057517138
23andMe allrs1057517138
SNPshotrs1057517138
SNPdbers1057517138
MSV3drs1057517138
GWAS Ctlgrs1057517138
Max Magnitude0
ClinVar
Risk rs1057517138(-;-)
Alt rs1057517138(-;-)
Reference Rs1057517138(AT;AT)
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.23912270_23912271delAT
CLNSRC
CLNACC RCV000411869.1,