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rs1057517305

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517305(-;GT)
Make rs1057517305(GT;GT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23338801
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517305
dbSNP (old)rs1057517305
ClinGenrs1057517305
ebirs1057517305
HLIrs1057517305
Exacrs1057517305
Gnomadrs1057517305
Varsomers1057517305
Maprs1057517305
PheGenIrs1057517305
Biobankrs1057517305
1000 genomesrs1057517305
hgdprs1057517305
ensemblrs1057517305
gopubmedrs1057517305
geneviewrs1057517305
scholarrs1057517305
googlers1057517305
pharmgkbrs1057517305
gwascentralrs1057517305
openSNPrs1057517305
23andMers1057517305
23andMe allrs1057517305
SNPshotrs1057517305
SNPdbers1057517305
MSV3drs1057517305
GWAS Ctlgrs1057517305
Max Magnitude0
ClinVar
Risk rs1057517305(GT;GT)
Alt rs1057517305(GT;GT)
Reference Rs1057517305(-;-)
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.23912941_23912942dupAC
CLNSRC
CLNACC RCV000409240.1,