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rs1057519538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAA;AAA) 0 common in clinvar
Make rs1057519538(-;-)
Make rs1057519538(-;AAA)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127651622
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057519538
dbSNP (old)rs1057519538
ClinGenrs1057519538
ebirs1057519538
HLIrs1057519538
Exacrs1057519538
Gnomadrs1057519538
Varsomers1057519538
Maprs1057519538
PheGenIrs1057519538
Biobankrs1057519538
1000 genomesrs1057519538
hgdprs1057519538
ensemblrs1057519538
gopubmedrs1057519538
geneviewrs1057519538
scholarrs1057519538
googlers1057519538
pharmgkbrs1057519538
gwascentralrs1057519538
openSNPrs1057519538
23andMers1057519538
23andMe allrs1057519538
SNPshotrs1057519538
SNPdbers1057519538
MSV3drs1057519538
GWAS Ctlgrs1057519538
Max Magnitude0
ClinVar
Risk rs1057519538(-;-)
Alt rs1057519538(-;-)
Reference Rs1057519538(AAA;AAA)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene STXBP1
CLNDBN Epileptic encephalopathy
Reversed 0
HGVS NC_000009.11:g.130413901_130413903delAAA
CLNSRC
CLNACC RCV000417033.1,