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rs1057516856

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516856(-;G)
Make rs1057516856(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23332794
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516856
dbSNP (old)rs1057516856
ClinGenrs1057516856
ebirs1057516856
HLIrs1057516856
Exacrs1057516856
Gnomadrs1057516856
Varsomers1057516856
Maprs1057516856
PheGenIrs1057516856
Biobankrs1057516856
1000 genomesrs1057516856
hgdprs1057516856
ensemblrs1057516856
gopubmedrs1057516856
geneviewrs1057516856
scholarrs1057516856
googlers1057516856
pharmgkbrs1057516856
gwascentralrs1057516856
openSNPrs1057516856
23andMers1057516856
23andMe allrs1057516856
SNP Nexus

SNPshotrs1057516856
SNPdbers1057516856
MSV3drs1057516856
GWAS Ctlgrs1057516856
Max Magnitude0
ClinVar
Risk rs1057516856(G;G)
Alt rs1057516856(G;G)
Reference Rs1057516856(-;-)
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.23906934dupC
CLNSRC
CLNACC RCV000410800.1,