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rs1057517034

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517034(-;TG)
Make rs1057517034(TG;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23340961
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517034
dbSNP (old)rs1057517034
ClinGenrs1057517034
ebirs1057517034
HLIrs1057517034
Exacrs1057517034
Gnomadrs1057517034
Varsomers1057517034
Maprs1057517034
PheGenIrs1057517034
Biobankrs1057517034
1000 genomesrs1057517034
hgdprs1057517034
ensemblrs1057517034
gopubmedrs1057517034
geneviewrs1057517034
scholarrs1057517034
googlers1057517034
pharmgkbrs1057517034
gwascentralrs1057517034
openSNPrs1057517034
23andMers1057517034
23andMe allrs1057517034
SNPshotrs1057517034
SNPdbers1057517034
MSV3drs1057517034
GWAS Ctlgrs1057517034
Max Magnitude0
ClinVar
Risk rs1057517034(TG;TG)
Alt rs1057517034(TG;TG)
Reference Rs1057517034(-;-)
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.23915101_23915102dupCA
CLNSRC
CLNACC RCV000409133.1,