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

rs121918321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918321(C;T)
Make rs121918321(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position127675855
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs121918321
ebirs121918321
HLIrs121918321
Exacrs121918321
Varsomers121918321
Maprs121918321
PheGenIrs121918321
hapmaprs121918321
1000 genomesrs121918321
hgdprs121918321
ensemblrs121918321
gopubmedrs121918321
geneviewrs121918321
scholarrs121918321
googlers121918321
pharmgkbrs121918321
gwascentralrs121918321
openSNPrs121918321
23andMers121918321
23andMe allrs121918321
SNP Nexus

SNPshotrs121918321
SNPdbers121918321
MSV3drs121918321
GWAS Ctlgrs121918321
Max Magnitude0
OMIM602926
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918321(T;T)
Alt rs121918321(T;T)
Reference rs121918321(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 4 not provided
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4 not provided
Reversed 0
HGVS NC_000009.11:g.130438134C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007122.2, RCV000189612.1,