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rs1057517020

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057517020(-;-)
Make rs1057517020(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23335142
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517020
dbSNP (old)rs1057517020
ClinGenrs1057517020
ebirs1057517020
HLIrs1057517020
Exacrs1057517020
Gnomadrs1057517020
Varsomers1057517020
Maprs1057517020
PheGenIrs1057517020
Biobankrs1057517020
1000 genomesrs1057517020
hgdprs1057517020
ensemblrs1057517020
gopubmedrs1057517020
geneviewrs1057517020
scholarrs1057517020
googlers1057517020
pharmgkbrs1057517020
gwascentralrs1057517020
openSNPrs1057517020
23andMers1057517020
23andMe allrs1057517020
SNPshotrs1057517020
SNPdbers1057517020
MSV3drs1057517020
GWAS Ctlgrs1057517020
Max Magnitude0
ClinVar
Risk rs1057517020(-;-)
Alt rs1057517020(-;-)
Reference Rs1057517020(CA;CA)
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.23909281_23909282delTG
CLNSRC
CLNACC RCV000409838.1,