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rs1057518331

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs1057518331(-;-)
Make rs1057518331(-;AG)
Make rs1057518331(AG;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127612440
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057518331
dbSNP (old)rs1057518331
ClinGenrs1057518331
ebirs1057518331
HLIrs1057518331
Exacrs1057518331
Gnomadrs1057518331
Varsomers1057518331
Maprs1057518331
PheGenIrs1057518331
Biobankrs1057518331
1000 genomesrs1057518331
hgdprs1057518331
ensemblrs1057518331
gopubmedrs1057518331
geneviewrs1057518331
scholarrs1057518331
googlers1057518331
pharmgkbrs1057518331
gwascentralrs1057518331
openSNPrs1057518331
23andMers1057518331
23andMe allrs1057518331
SNPshotrs1057518331
SNPdbers1057518331
MSV3drs1057518331
GWAS Ctlgrs1057518331
Max Magnitude0
ClinVar
Risk rs1057518331(-;-)
Alt rs1057518331(-;-)
Reference Rs1057518331(GA;GA)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130374719_130374720delAG
CLNSRC
CLNACC RCV000413061.1,