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rs1057517060

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517060(-;TT)
Make rs1057517060(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23334786
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517060
dbSNP (old)rs1057517060
ClinGenrs1057517060
ebirs1057517060
HLIrs1057517060
Exacrs1057517060
Gnomadrs1057517060
Varsomers1057517060
LitVarrs1057517060
Maprs1057517060
PheGenIrs1057517060
Biobankrs1057517060
1000 genomesrs1057517060
hgdprs1057517060
ensemblrs1057517060
gopubmedrs1057517060
geneviewrs1057517060
scholarrs1057517060
googlers1057517060
pharmgkbrs1057517060
gwascentralrs1057517060
openSNPrs1057517060
23andMers1057517060
23andMe allrs1057517060
SNPshotrs1057517060
SNPdbers1057517060
MSV3drs1057517060
GWAS Ctlgrs1057517060
Max Magnitude0
ClinVar
Risk rs1057517060(TT;TT)
Alt rs1057517060(TT;TT)
Reference Rs1057517060(-;-)
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.23908926_23908927dupAA
CLNSRC
CLNACC RCV000410750.1,