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rs121918318

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918318(A;A)
Make rs121918318(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position127663314
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs121918318
ebirs121918318
HLIrs121918318
Exacrs121918318
Varsomers121918318
Maprs121918318
PheGenIrs121918318
hapmaprs121918318
1000 genomesrs121918318
hgdprs121918318
ensemblrs121918318
gopubmedrs121918318
geneviewrs121918318
scholarrs121918318
googlers121918318
pharmgkbrs121918318
gwascentralrs121918318
openSNPrs121918318
23andMers121918318
23andMe allrs121918318
SNP Nexus

SNPshotrs121918318
SNPdbers121918318
MSV3drs121918318
GWAS Ctlgrs121918318
Max Magnitude0
OMIM602926
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918318(A;A)
Alt rs121918318(A;A)
Reference rs121918318(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.130425593G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007119.2,