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rs1057516625

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057516625(-;-)
Make rs1057516625(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23355422
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516625
dbSNP (old)rs1057516625
ClinGenrs1057516625
ebirs1057516625
HLIrs1057516625
Exacrs1057516625
Gnomadrs1057516625
Varsomers1057516625
Maprs1057516625
PheGenIrs1057516625
Biobankrs1057516625
1000 genomesrs1057516625
hgdprs1057516625
ensemblrs1057516625
gopubmedrs1057516625
geneviewrs1057516625
scholarrs1057516625
googlers1057516625
pharmgkbrs1057516625
gwascentralrs1057516625
openSNPrs1057516625
23andMers1057516625
23andMe allrs1057516625
SNPshotrs1057516625
SNPdbers1057516625
MSV3drs1057516625
GWAS Ctlgrs1057516625
Max Magnitude0
ClinVar
Risk rs1057516625(-;-)
Alt rs1057516625(-;-)
Reference Rs1057516625(AG;AG)
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.23929561_23929562delCT
CLNSRC
CLNACC RCV000409079.1,