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rs587777310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777310(A;A)
Make rs587777310(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position127668132
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs587777310
ebirs587777310
HLIrs587777310
Exacrs587777310
Varsomers587777310
Maprs587777310
PheGenIrs587777310
hapmaprs587777310
1000 genomesrs587777310
hgdprs587777310
ensemblrs587777310
gopubmedrs587777310
geneviewrs587777310
scholarrs587777310
googlers587777310
pharmgkbrs587777310
gwascentralrs587777310
openSNPrs587777310
23andMers587777310
23andMe allrs587777310
SNP Nexus

SNPshotrs587777310
SNPdbers587777310
MSV3drs587777310
GWAS Ctlgrs587777310
Max Magnitude0
ClinVar
Risk rs587777310(A;A)
Alt rs587777310(A;A)
Reference rs587777310(G;G)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130430411G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114939.2,