Have questions? Visit https://www.reddit.com/r/SNPedia

rs121918320

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121918320(A;A)
Make rs121918320(A;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position127660034
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs121918320
ebirs121918320
HLIrs121918320
Exacrs121918320
Varsomers121918320
Maprs121918320
PheGenIrs121918320
hapmaprs121918320
1000 genomesrs121918320
hgdprs121918320
ensemblrs121918320
gopubmedrs121918320
geneviewrs121918320
scholarrs121918320
googlers121918320
pharmgkbrs121918320
gwascentralrs121918320
openSNPrs121918320
23andMers121918320
23andMe allrs121918320
SNP Nexus

SNPshotrs121918320
SNPdbers121918320
MSV3drs121918320
GWAS Ctlgrs121918320
Max Magnitude0
OMIM602926
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918320(A;A)
Alt rs121918320(A;A)
Reference rs121918320(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.130422313T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007121.2,