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rs1057516829

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516829(-;TT)
Make rs1057516829(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23341245
GeneSACS
is asnp
is mentioned by
dbSNPrs1057516829
dbSNP (old)rs1057516829
ClinGenrs1057516829
ebirs1057516829
HLIrs1057516829
Exacrs1057516829
Gnomadrs1057516829
Varsomers1057516829
Maprs1057516829
PheGenIrs1057516829
Biobankrs1057516829
1000 genomesrs1057516829
hgdprs1057516829
ensemblrs1057516829
gopubmedrs1057516829
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pharmgkbrs1057516829
gwascentralrs1057516829
openSNPrs1057516829
23andMers1057516829
23andMe allrs1057516829
SNP Nexus

SNPshotrs1057516829
SNPdbers1057516829
MSV3drs1057516829
GWAS Ctlgrs1057516829
Max Magnitude0
ClinVar
Risk rs1057516829(TT;TT)
Alt rs1057516829(TT;TT)
Reference Rs1057516829(-;-)
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.23915385_23915386dupAA
CLNSRC
CLNACC RCV000410288.1,