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rs796053351

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs796053351(A;C)
Make rs796053351(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127653713
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053351
dbSNP (classic)rs796053351
ClinGenrs796053351
ebirs796053351
HLIrs796053351
Exacrs796053351
Gnomadrs796053351
Varsomers796053351
LitVarrs796053351
Maprs796053351
PheGenIrs796053351
Biobankrs796053351
1000 genomesrs796053351
hgdprs796053351
ensemblrs796053351
geneviewrs796053351
scholarrs796053351
googlers796053351
pharmgkbrs796053351
gwascentralrs796053351
openSNPrs796053351
23andMers796053351
SNPshotrs796053351
SNPdbers796053351
MSV3drs796053351
GWAS Ctlgrs796053351
Max Magnitude0
ClinVar
Risk rs796053351(C;C)
Alt rs796053351(C;C)
Reference Rs796053351(A;A)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130415992A>C
CLNSRC
CLNACC RCV000189594.1,