Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057517294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGAA;AAGAA) 0 common in clinvar
Make rs1057517294(-;-)
Make rs1057517294(-;AAGAA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23330949
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517294
dbSNP (old)rs1057517294
ClinGenrs1057517294
ebirs1057517294
HLIrs1057517294
Exacrs1057517294
Gnomadrs1057517294
Varsomers1057517294
Maprs1057517294
PheGenIrs1057517294
Biobankrs1057517294
1000 genomesrs1057517294
hgdprs1057517294
ensemblrs1057517294
gopubmedrs1057517294
geneviewrs1057517294
scholarrs1057517294
googlers1057517294
pharmgkbrs1057517294
gwascentralrs1057517294
openSNPrs1057517294
23andMers1057517294
23andMe allrs1057517294
SNPshotrs1057517294
SNPdbers1057517294
MSV3drs1057517294
GWAS Ctlgrs1057517294
Max Magnitude0
ClinVar
Risk rs1057517294(-;-)
Alt rs1057517294(-;-)
Reference Rs1057517294(AAGAA;AAGAA)
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.23905088_23905092delTTCTT
CLNSRC
CLNACC RCV000409460.1,