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rs727504173

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504173(G;T)
Make rs727504173(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position127672117
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs727504173
ebirs727504173
HLIrs727504173
Exacrs727504173
Varsomers727504173
Maprs727504173
PheGenIrs727504173
hapmaprs727504173
1000 genomesrs727504173
hgdprs727504173
ensemblrs727504173
gopubmedrs727504173
geneviewrs727504173
scholarrs727504173
googlers727504173
pharmgkbrs727504173
gwascentralrs727504173
openSNPrs727504173
23andMers727504173
23andMe allrs727504173
SNP Nexus

SNPshotrs727504173
SNPdbers727504173
MSV3drs727504173
GWAS Ctlgrs727504173
Max Magnitude0
ClinVar
Risk rs727504173(T;T)
Alt rs727504173(T;T)
Reference rs727504173(G;G)
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.130434396G>C; NC_000009.11:g.130434396G>T
CLNSRC HGMD
CLNACC RCV000193347.1, RCV000153997.3,