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rs796053376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796053376(C;T)
Make rs796053376(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127682530
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053376
dbSNP (classic)rs796053376
ClinGenrs796053376
ebirs796053376
HLIrs796053376
Exacrs796053376
Gnomadrs796053376
Varsomers796053376
LitVarrs796053376
Maprs796053376
PheGenIrs796053376
Biobankrs796053376
1000 genomesrs796053376
hgdprs796053376
ensemblrs796053376
geneviewrs796053376
scholarrs796053376
googlers796053376
pharmgkbrs796053376
gwascentralrs796053376
openSNPrs796053376
23andMers796053376
SNPshotrs796053376
SNPdbers796053376
MSV3drs796053376
GWAS Ctlgrs796053376
Max Magnitude0
ClinVar
Risk rs796053376(T;T)
Alt rs796053376(T;T)
Reference Rs796053376(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130444809C>T
CLNSRC
CLNACC RCV000189626.1,