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rs1057517285

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517285(C;T)
Make rs1057517285(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23341652
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517285
dbSNP (old)rs1057517285
ClinGenrs1057517285
ebirs1057517285
HLIrs1057517285
Exacrs1057517285
Gnomadrs1057517285
Varsomers1057517285
Maprs1057517285
PheGenIrs1057517285
Biobankrs1057517285
1000 genomesrs1057517285
hgdprs1057517285
ensemblrs1057517285
gopubmedrs1057517285
geneviewrs1057517285
scholarrs1057517285
googlers1057517285
pharmgkbrs1057517285
gwascentralrs1057517285
openSNPrs1057517285
23andMers1057517285
23andMe allrs1057517285
SNP Nexus

SNPshotrs1057517285
SNPdbers1057517285
MSV3drs1057517285
GWAS Ctlgrs1057517285
Max Magnitude0
ClinVar
Risk rs1057517285(T;T)
Alt rs1057517285(T;T)
Reference Rs1057517285(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.23915791G>A
CLNSRC
CLNACC RCV000412381.1,