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rs1057518123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518123(G;T)
Make rs1057518123(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127682407
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057518123
dbSNP (old)rs1057518123
ClinGenrs1057518123
ebirs1057518123
HLIrs1057518123
Exacrs1057518123
Gnomadrs1057518123
Varsomers1057518123
Maprs1057518123
PheGenIrs1057518123
Biobankrs1057518123
1000 genomesrs1057518123
hgdprs1057518123
ensemblrs1057518123
gopubmedrs1057518123
geneviewrs1057518123
scholarrs1057518123
googlers1057518123
pharmgkbrs1057518123
gwascentralrs1057518123
openSNPrs1057518123
23andMers1057518123
23andMe allrs1057518123
SNPshotrs1057518123
SNPdbers1057518123
MSV3drs1057518123
GWAS Ctlgrs1057518123
Max Magnitude0
ClinVar
Risk rs1057518123(T;T)
Alt rs1057518123(T;T)
Reference Rs1057518123(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130444686G>T
CLNSRC
CLNACC RCV000412866.1,