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rs1057520544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520544(A;A)
Make rs1057520544(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127682547
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057520544
dbSNP (classic)rs1057520544
ClinGenrs1057520544
ebirs1057520544
HLIrs1057520544
Exacrs1057520544
Gnomadrs1057520544
Varsomers1057520544
LitVarrs1057520544
Maprs1057520544
PheGenIrs1057520544
Biobankrs1057520544
1000 genomesrs1057520544
hgdprs1057520544
ensemblrs1057520544
geneviewrs1057520544
scholarrs1057520544
googlers1057520544
pharmgkbrs1057520544
gwascentralrs1057520544
openSNPrs1057520544
23andMers1057520544
23andMe allrs1057520544
SNPshotrs1057520544
SNPdbers1057520544
MSV3drs1057520544
GWAS Ctlgrs1057520544
Max Magnitude0
ClinVar
Risk rs1057520544(A;A)
Alt rs1057520544(A;A)
Reference Rs1057520544(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130444826G>A
CLNSRC
CLNACC RCV000427600.1,