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rs1057519539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519539(G;T)
Make rs1057519539(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127678479
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057519539
dbSNP (old)rs1057519539
ClinGenrs1057519539
ebirs1057519539
HLIrs1057519539
Exacrs1057519539
Gnomadrs1057519539
Varsomers1057519539
Maprs1057519539
PheGenIrs1057519539
Biobankrs1057519539
1000 genomesrs1057519539
hgdprs1057519539
ensemblrs1057519539
gopubmedrs1057519539
geneviewrs1057519539
scholarrs1057519539
googlers1057519539
pharmgkbrs1057519539
gwascentralrs1057519539
openSNPrs1057519539
23andMers1057519539
23andMe allrs1057519539
SNPshotrs1057519539
SNPdbers1057519539
MSV3drs1057519539
GWAS Ctlgrs1057519539
Max Magnitude0
ClinVar
Risk rs1057519539(T;T)
Alt rs1057519539(T;T)
Reference Rs1057519539(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130440758G>T
CLNSRC
CLNACC RCV000416969.1,