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rs1060501722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501722(A;A)
Make rs1060501722(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127678505
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1060501722
dbSNP (old)rs1060501722
ClinGenrs1060501722
ebirs1060501722
HLIrs1060501722
Exacrs1060501722
Gnomadrs1060501722
Varsomers1060501722
LitVarrs1060501722
Maprs1060501722
PheGenIrs1060501722
Biobankrs1060501722
1000 genomesrs1060501722
hgdprs1060501722
ensemblrs1060501722
gopubmedrs1060501722
geneviewrs1060501722
scholarrs1060501722
googlers1060501722
pharmgkbrs1060501722
gwascentralrs1060501722
openSNPrs1060501722
23andMers1060501722
23andMe allrs1060501722
SNPshotrs1060501722
SNPdbers1060501722
MSV3drs1060501722
GWAS Ctlgrs1060501722
Max Magnitude0
ClinVar
Risk rs1060501722(A;A)
Alt rs1060501722(A;A)
Reference Rs1060501722(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130440784G>A
CLNSRC
CLNACC RCV000464099.1,