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rs1057517301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517301(-;-)
Make rs1057517301(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23337072
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517301
dbSNP (old)rs1057517301
ClinGenrs1057517301
ebirs1057517301
HLIrs1057517301
Exacrs1057517301
Gnomadrs1057517301
Varsomers1057517301
LitVarrs1057517301
Maprs1057517301
PheGenIrs1057517301
Biobankrs1057517301
1000 genomesrs1057517301
hgdprs1057517301
ensemblrs1057517301
gopubmedrs1057517301
geneviewrs1057517301
scholarrs1057517301
googlers1057517301
pharmgkbrs1057517301
gwascentralrs1057517301
openSNPrs1057517301
23andMers1057517301
23andMe allrs1057517301
SNPshotrs1057517301
SNPdbers1057517301
MSV3drs1057517301
GWAS Ctlgrs1057517301
Max Magnitude0
ClinVar
Risk rs1057517301(-;-)
Alt rs1057517301(-;-)
Reference Rs1057517301(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.23911211delA
CLNSRC
CLNACC RCV000411394.1,