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rs1057519537

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519537(A;A)
Make rs1057519537(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127682423
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057519537
dbSNP (classic)rs1057519537
ClinGenrs1057519537
ebirs1057519537
HLIrs1057519537
Exacrs1057519537
Gnomadrs1057519537
Varsomers1057519537
LitVarrs1057519537
Maprs1057519537
PheGenIrs1057519537
Biobankrs1057519537
1000 genomesrs1057519537
hgdprs1057519537
ensemblrs1057519537
geneviewrs1057519537
scholarrs1057519537
googlers1057519537
pharmgkbrs1057519537
gwascentralrs1057519537
openSNPrs1057519537
23andMers1057519537
23andMe allrs1057519537
SNPshotrs1057519537
SNPdbers1057519537
MSV3drs1057519537
GWAS Ctlgrs1057519537
Max Magnitude0
ClinVar
Risk rs1057519537(A;A)
Alt rs1057519537(A;A)
Reference Rs1057519537(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130444702G>A
CLNSRC
CLNACC RCV000416996.1,