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rs1060501724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501724(A;C)
Make rs1060501724(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127661161
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1060501724
dbSNP (old)rs1060501724
ClinGenrs1060501724
ebirs1060501724
HLIrs1060501724
Exacrs1060501724
Gnomadrs1060501724
Varsomers1060501724
Maprs1060501724
PheGenIrs1060501724
Biobankrs1060501724
1000 genomesrs1060501724
hgdprs1060501724
ensemblrs1060501724
gopubmedrs1060501724
geneviewrs1060501724
scholarrs1060501724
googlers1060501724
pharmgkbrs1060501724
gwascentralrs1060501724
openSNPrs1060501724
23andMers1060501724
23andMe allrs1060501724
SNPshotrs1060501724
SNPdbers1060501724
MSV3drs1060501724
GWAS Ctlgrs1060501724
Max Magnitude0
ClinVar
Risk rs1060501724(C;C)
Alt rs1060501724(C;C)
Reference Rs1060501724(A;A)
Significance Probable-Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130423440A>C
CLNSRC
CLNACC RCV000456399.1,