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rs1057517002

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517002(C;T)
Make rs1057517002(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23333072
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517002
dbSNP (old)rs1057517002
ClinGenrs1057517002
ebirs1057517002
HLIrs1057517002
Exacrs1057517002
Gnomadrs1057517002
Varsomers1057517002
Maprs1057517002
PheGenIrs1057517002
Biobankrs1057517002
1000 genomesrs1057517002
hgdprs1057517002
ensemblrs1057517002
gopubmedrs1057517002
geneviewrs1057517002
scholarrs1057517002
googlers1057517002
pharmgkbrs1057517002
gwascentralrs1057517002
openSNPrs1057517002
23andMers1057517002
23andMe allrs1057517002
SNP Nexus

SNPshotrs1057517002
SNPdbers1057517002
MSV3drs1057517002
GWAS Ctlgrs1057517002
Max Magnitude0
ClinVar
Risk rs1057517002(A;A) rs1057517002(T;T)
Alt rs1057517002(A;A) rs1057517002(T;T)
Reference Rs1057517002(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.23907211G>A
CLNSRC
CLNACC RCV000411733.1,