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rs121918317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918317(A;A)
Make rs121918317(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127682489
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs121918317
ebirs121918317
HLIrs121918317
Exacrs121918317
Varsomers121918317
Maprs121918317
PheGenIrs121918317
hapmaprs121918317
1000 genomesrs121918317
hgdprs121918317
ensemblrs121918317
gopubmedrs121918317
geneviewrs121918317
scholarrs121918317
googlers121918317
pharmgkbrs121918317
gwascentralrs121918317
openSNPrs121918317
23andMers121918317
23andMe allrs121918317
SNP Nexus

SNPshotrs121918317
SNPdbers121918317
MSV3drs121918317
GWAS Ctlgrs121918317
Max Magnitude0
OMIM602926
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918317(A;A)
Alt rs121918317(A;A)
Reference rs121918317(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.130444768G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007118.2,