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rs1057517232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517232(-;-)
Make rs1057517232(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23332145
GeneSACS
is asnp
is mentioned by
dbSNPrs1057517232
dbSNP (old)rs1057517232
ClinGenrs1057517232
ebirs1057517232
HLIrs1057517232
Exacrs1057517232
Gnomadrs1057517232
Varsomers1057517232
Maprs1057517232
PheGenIrs1057517232
Biobankrs1057517232
1000 genomesrs1057517232
hgdprs1057517232
ensemblrs1057517232
gopubmedrs1057517232
geneviewrs1057517232
scholarrs1057517232
googlers1057517232
pharmgkbrs1057517232
gwascentralrs1057517232
openSNPrs1057517232
23andMers1057517232
23andMe allrs1057517232
SNPshotrs1057517232
SNPdbers1057517232
MSV3drs1057517232
GWAS Ctlgrs1057517232
Max Magnitude0
ClinVar
Risk rs1057517232(-;-)
Alt rs1057517232(-;-)
Reference Rs1057517232(A;A)
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.23906284delT
CLNSRC
CLNACC RCV000411930.1,