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rs121918319

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918319(G;G)
Make rs121918319(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position127676722
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs121918319
ebirs121918319
HLIrs121918319
Exacrs121918319
Varsomers121918319
Maprs121918319
PheGenIrs121918319
hapmaprs121918319
1000 genomesrs121918319
hgdprs121918319
ensemblrs121918319
gopubmedrs121918319
geneviewrs121918319
scholarrs121918319
googlers121918319
pharmgkbrs121918319
gwascentralrs121918319
openSNPrs121918319
23andMers121918319
23andMe allrs121918319
SNP Nexus

SNPshotrs121918319
SNPdbers121918319
MSV3drs121918319
GWAS Ctlgrs121918319
Max Magnitude0
OMIM602926
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918319(G;G)
Alt rs121918319(G;G)
Reference rs121918319(T;T)
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.130439001T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007120.3,