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rs1060501723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060501723(-;-)
Make rs1060501723(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127660048
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1060501723
dbSNP (old)rs1060501723
ClinGenrs1060501723
ebirs1060501723
HLIrs1060501723
Exacrs1060501723
Gnomadrs1060501723
Varsomers1060501723
Maprs1060501723
PheGenIrs1060501723
Biobankrs1060501723
1000 genomesrs1060501723
hgdprs1060501723
ensemblrs1060501723
gopubmedrs1060501723
geneviewrs1060501723
scholarrs1060501723
googlers1060501723
pharmgkbrs1060501723
gwascentralrs1060501723
openSNPrs1060501723
23andMers1060501723
23andMe allrs1060501723
SNPshotrs1060501723
SNPdbers1060501723
MSV3drs1060501723
GWAS Ctlgrs1060501723
Max Magnitude0
ClinVar
Risk rs1060501723(-;-)
Alt rs1060501723(-;-)
Reference Rs1060501723(A;A)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130422327delA
CLNSRC
CLNACC RCV000470907.1,