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rs1057517222

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517222(-;T)
Make rs1057517222(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23336761
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517222
dbSNP (old)rs1057517222
ClinGenrs1057517222
ebirs1057517222
HLIrs1057517222
Exacrs1057517222
Gnomadrs1057517222
Varsomers1057517222
Maprs1057517222
PheGenIrs1057517222
Biobankrs1057517222
1000 genomesrs1057517222
hgdprs1057517222
ensemblrs1057517222
gopubmedrs1057517222
geneviewrs1057517222
scholarrs1057517222
googlers1057517222
pharmgkbrs1057517222
gwascentralrs1057517222
openSNPrs1057517222
23andMers1057517222
23andMe allrs1057517222
SNPshotrs1057517222
SNPdbers1057517222
MSV3drs1057517222
GWAS Ctlgrs1057517222
Max Magnitude0
ClinVar
Risk rs1057517222(T;T)
Alt rs1057517222(T;T)
Reference Rs1057517222(-;-)
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.23910901dupA
CLNSRC
CLNACC RCV000412481.1,