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rs1057517250

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517250(G;G)
Make rs1057517250(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23333740
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517250
dbSNP (old)rs1057517250
ClinGenrs1057517250
ebirs1057517250
HLIrs1057517250
Exacrs1057517250
Gnomadrs1057517250
Varsomers1057517250
Maprs1057517250
PheGenIrs1057517250
Biobankrs1057517250
1000 genomesrs1057517250
hgdprs1057517250
ensemblrs1057517250
gopubmedrs1057517250
geneviewrs1057517250
scholarrs1057517250
googlers1057517250
pharmgkbrs1057517250
gwascentralrs1057517250
openSNPrs1057517250
23andMers1057517250
23andMe allrs1057517250
SNP Nexus

SNPshotrs1057517250
SNPdbers1057517250
MSV3drs1057517250
GWAS Ctlgrs1057517250
Max Magnitude0
ClinVar
Risk rs1057517250(G;G)
Alt rs1057517250(G;G)
Reference Rs1057517250(T;T)
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.23907879A>C
CLNSRC
CLNACC RCV000412241.1,