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rs1057517311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517311(C;T)
Make rs1057517311(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338751
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517311
dbSNP (old)rs1057517311
ClinGenrs1057517311
ebirs1057517311
HLIrs1057517311
Exacrs1057517311
Gnomadrs1057517311
Varsomers1057517311
Maprs1057517311
PheGenIrs1057517311
Biobankrs1057517311
1000 genomesrs1057517311
hgdprs1057517311
ensemblrs1057517311
gopubmedrs1057517311
geneviewrs1057517311
scholarrs1057517311
googlers1057517311
pharmgkbrs1057517311
gwascentralrs1057517311
openSNPrs1057517311
23andMers1057517311
23andMe allrs1057517311
SNPshotrs1057517311
SNPdbers1057517311
MSV3drs1057517311
GWAS Ctlgrs1057517311
Max Magnitude0
ClinVar
Risk rs1057517311(T;T)
Alt rs1057517311(T;T)
Reference Rs1057517311(C;C)
Significance Pathogenic
Disease Spastic ataxia Charlevoix-Saguenay type
Variation info
Gene SACS
CLNDBN Spastic ataxia Charlevoix-Saguenay type
Reversed 1
HGVS NC_000013.10:g.23912890G>A
CLNSRC
CLNACC RCV000412006.1,