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rs1057517856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517856(C;T)
Make rs1057517856(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position127672099
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs1057517856
dbSNP (classic)rs1057517856
ClinGenrs1057517856
ebirs1057517856
HLIrs1057517856
Exacrs1057517856
Gnomadrs1057517856
Varsomers1057517856
LitVarrs1057517856
Maprs1057517856
PheGenIrs1057517856
Biobankrs1057517856
1000 genomesrs1057517856
hgdprs1057517856
ensemblrs1057517856
geneviewrs1057517856
scholarrs1057517856
googlers1057517856
pharmgkbrs1057517856
gwascentralrs1057517856
openSNPrs1057517856
23andMers1057517856
SNPshotrs1057517856
SNPdbers1057517856
MSV3drs1057517856
GWAS Ctlgrs1057517856
Max Magnitude0
ClinVar
Risk rs1057517856(T;T)
Alt rs1057517856(T;T)
Reference Rs1057517856(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130434378C>T
CLNSRC
CLNACC RCV000414453.1,