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

rs1057516438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGA;AAGA) 0 common in clinvar
Make rs1057516438(-;-)
Make rs1057516438(-;AAGA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336352
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516438
dbSNP (old)rs1057516438
ClinGenrs1057516438
ebirs1057516438
HLIrs1057516438
Exacrs1057516438
Gnomadrs1057516438
Varsomers1057516438
LitVarrs1057516438
Maprs1057516438
PheGenIrs1057516438
Biobankrs1057516438
1000 genomesrs1057516438
hgdprs1057516438
ensemblrs1057516438
gopubmedrs1057516438
geneviewrs1057516438
scholarrs1057516438
googlers1057516438
pharmgkbrs1057516438
gwascentralrs1057516438
openSNPrs1057516438
23andMers1057516438
23andMe allrs1057516438
SNPshotrs1057516438
SNPdbers1057516438
MSV3drs1057516438
GWAS Ctlgrs1057516438
Max Magnitude0
ClinVar
Risk rs1057516438(-;-)
Alt rs1057516438(-;-)
Reference Rs1057516438(AAGA;AAGA)
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.23910491_23910494delTCTT
CLNSRC
CLNACC RCV000410665.1,