Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057518989

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518989(-;-)
Make rs1057518989(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127673223
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057518989
dbSNP (old)rs1057518989
ClinGenrs1057518989
ebirs1057518989
HLIrs1057518989
Exacrs1057518989
Gnomadrs1057518989
Varsomers1057518989
Maprs1057518989
PheGenIrs1057518989
Biobankrs1057518989
1000 genomesrs1057518989
hgdprs1057518989
ensemblrs1057518989
gopubmedrs1057518989
geneviewrs1057518989
scholarrs1057518989
googlers1057518989
pharmgkbrs1057518989
gwascentralrs1057518989
openSNPrs1057518989
23andMers1057518989
23andMe allrs1057518989
SNPshotrs1057518989
SNPdbers1057518989
MSV3drs1057518989
GWAS Ctlgrs1057518989
Max Magnitude0
ClinVar
Risk rs1057518989(-;-)
Alt rs1057518989(-;-)
Reference Rs1057518989(T;T)
Significance Probable-Pathogenic
Disease Severe intellectual deficiency
Variation info
Gene STXBP1
CLNDBN Severe intellectual deficiency
Reversed 0
HGVS NC_000009.11:g.130435502delT
CLNSRC
CLNACC RCV000415268.1,