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rs751170778

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs751170778(C;C)
Make rs751170778(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position127668083
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs751170778
ebirs751170778
HLIrs751170778
Exacrs751170778
Varsomers751170778
Maprs751170778
PheGenIrs751170778
hapmaprs751170778
1000 genomesrs751170778
hgdprs751170778
ensemblrs751170778
gopubmedrs751170778
geneviewrs751170778
scholarrs751170778
googlers751170778
pharmgkbrs751170778
gwascentralrs751170778
openSNPrs751170778
23andMers751170778
23andMe allrs751170778
SNP Nexus

SNPshotrs751170778
SNPdbers751170778
MSV3drs751170778
GWAS Ctlgrs751170778
Max Magnitude0
ClinVar
Risk rs751170778(C;C)
Alt rs751170778(C;C)
Reference rs751170778(T;T)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130430362T>G
CLNSRC
CLNACC RCV000232712.1,