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rs1057516222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516222(-;-)
Make rs1057516222(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23339837
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516222
dbSNP (classic)rs1057516222
ClinGenrs1057516222
ebirs1057516222
HLIrs1057516222
Exacrs1057516222
Gnomadrs1057516222
Varsomers1057516222
LitVarrs1057516222
Maprs1057516222
PheGenIrs1057516222
Biobankrs1057516222
1000 genomesrs1057516222
hgdprs1057516222
ensemblrs1057516222
geneviewrs1057516222
scholarrs1057516222
googlers1057516222
pharmgkbrs1057516222
gwascentralrs1057516222
openSNPrs1057516222
23andMers1057516222
23andMe allrs1057516222
SNPshotrs1057516222
SNPdbers1057516222
MSV3drs1057516222
GWAS Ctlgrs1057516222
Max Magnitude0
ClinVar
Risk rs1057516222(-;-)
Alt rs1057516222(-;-)
Reference Rs1057516222(C;C)
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.23913976delG
CLNSRC
CLNACC RCV000409583.1,