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rs1060499656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060499656(G;T)
Make rs1060499656(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome13
Position23335885
GeneSACS
is asnp
is mentioned by
dbSNPrs1060499656
dbSNP (old)rs1060499656
ClinGenrs1060499656
ebirs1060499656
HLIrs1060499656
Exacrs1060499656
Gnomadrs1060499656
Varsomers1060499656
Maprs1060499656
PheGenIrs1060499656
Biobankrs1060499656
1000 genomesrs1060499656
hgdprs1060499656
ensemblrs1060499656
gopubmedrs1060499656
geneviewrs1060499656
scholarrs1060499656
googlers1060499656
pharmgkbrs1060499656
gwascentralrs1060499656
openSNPrs1060499656
23andMers1060499656
23andMe allrs1060499656
SNPshotrs1060499656
SNPdbers1060499656
MSV3drs1060499656
GWAS Ctlgrs1060499656
Max Magnitude0
ClinVar
Risk rs1060499656(T;T)
Alt rs1060499656(T;T)
Reference Rs1060499656(G;G)
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.23910024C>A
CLNSRC
CLNACC RCV000449537.1,