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rs587776641

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587776641(A;A)
Make rs587776641(A;G)
ReferenceGRCh38 38.1/142
Chromosome9
Position127653797
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs587776641
ebirs587776641
HLIrs587776641
Exacrs587776641
Varsomers587776641
Maprs587776641
PheGenIrs587776641
hapmaprs587776641
1000 genomesrs587776641
hgdprs587776641
ensemblrs587776641
gopubmedrs587776641
geneviewrs587776641
scholarrs587776641
googlers587776641
pharmgkbrs587776641
gwascentralrs587776641
openSNPrs587776641
23andMers587776641
23andMe allrs587776641
SNP Nexus

SNPshotrs587776641
SNPdbers587776641
MSV3drs587776641
GWAS Ctlgrs587776641
Max Magnitude0
ClinVar
Risk rs587776641(A;A)
Alt rs587776641(A;A)
Reference rs587776641(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.130416076G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007123.3,