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

rs1057517123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517123(-;A)
Make rs1057517123(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23330592
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517123
dbSNP (old)rs1057517123
ClinGenrs1057517123
ebirs1057517123
HLIrs1057517123
Exacrs1057517123
Gnomadrs1057517123
Varsomers1057517123
Maprs1057517123
PheGenIrs1057517123
Biobankrs1057517123
1000 genomesrs1057517123
hgdprs1057517123
ensemblrs1057517123
gopubmedrs1057517123
geneviewrs1057517123
scholarrs1057517123
googlers1057517123
pharmgkbrs1057517123
gwascentralrs1057517123
openSNPrs1057517123
23andMers1057517123
23andMe allrs1057517123
SNPshotrs1057517123
SNPdbers1057517123
MSV3drs1057517123
GWAS Ctlgrs1057517123
Max Magnitude0
ClinVar
Risk rs1057517123(A;A)
Alt rs1057517123(A;A)
Reference Rs1057517123(-;-)
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.23904732dupT
CLNSRC
CLNACC RCV000409320.1,