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rs1057519501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519501(C;T)
Make rs1057519501(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127672093
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057519501
dbSNP (old)rs1057519501
ClinGenrs1057519501
ebirs1057519501
HLIrs1057519501
Exacrs1057519501
Gnomadrs1057519501
Varsomers1057519501
Maprs1057519501
PheGenIrs1057519501
Biobankrs1057519501
1000 genomesrs1057519501
hgdprs1057519501
ensemblrs1057519501
gopubmedrs1057519501
geneviewrs1057519501
scholarrs1057519501
googlers1057519501
pharmgkbrs1057519501
gwascentralrs1057519501
openSNPrs1057519501
23andMers1057519501
23andMe allrs1057519501
SNPshotrs1057519501
SNPdbers1057519501
MSV3drs1057519501
GWAS Ctlgrs1057519501
Max Magnitude0
ClinVar
Risk rs1057519501(T;T)
Alt rs1057519501(T;T)
Reference Rs1057519501(C;C)
Significance Pathogenic
Disease Early infantile epileptic encephalopathy 4
Variation info
Gene STXBP1
CLNDBN Early infantile epileptic encephalopathy 4
Reversed 0
HGVS NC_000009.11:g.130434372C>T
CLNSRC
CLNACC RCV000416539.1,