Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516294

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AATGCAA;AATGCAA) 0 common in clinvar
Make rs1057516294(-;-)
Make rs1057516294(-;AATGCAA)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23339405
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516294
dbSNP (classic)rs1057516294
ClinGenrs1057516294
ebirs1057516294
HLIrs1057516294
Exacrs1057516294
Gnomadrs1057516294
Varsomers1057516294
LitVarrs1057516294
Maprs1057516294
PheGenIrs1057516294
Biobankrs1057516294
1000 genomesrs1057516294
hgdprs1057516294
ensemblrs1057516294
geneviewrs1057516294
scholarrs1057516294
googlers1057516294
pharmgkbrs1057516294
gwascentralrs1057516294
openSNPrs1057516294
23andMers1057516294
23andMe allrs1057516294
SNPshotrs1057516294
SNPdbers1057516294
MSV3drs1057516294
GWAS Ctlgrs1057516294
Max Magnitude0
ClinVar
Risk rs1057516294(-;-)
Alt rs1057516294(-;-)
Reference Rs1057516294(AATGCAA;AATGCAA)
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.23913544_23913550delTTGCATT
CLNSRC
CLNACC RCV000409192.1,