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rs796053354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053354(G;T)
Make rs796053354(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127663204
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053354
dbSNP (classic)rs796053354
ClinGenrs796053354
ebirs796053354
HLIrs796053354
Exacrs796053354
Gnomadrs796053354
Varsomers796053354
LitVarrs796053354
Maprs796053354
PheGenIrs796053354
Biobankrs796053354
1000 genomesrs796053354
hgdprs796053354
ensemblrs796053354
geneviewrs796053354
scholarrs796053354
googlers796053354
pharmgkbrs796053354
gwascentralrs796053354
openSNPrs796053354
23andMers796053354
SNPshotrs796053354
SNPdbers796053354
MSV3drs796053354
GWAS Ctlgrs796053354
Max Magnitude0
ClinVar
Risk rs796053354(T;T)
Alt rs796053354(T;T)
Reference Rs796053354(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130425483G>T
CLNSRC
CLNACC RCV000189598.2,