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rs796053364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs796053364(G;T)
Make rs796053364(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127673180
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053364
dbSNP (classic)rs796053364
ClinGenrs796053364
ebirs796053364
HLIrs796053364
Exacrs796053364
Gnomadrs796053364
Varsomers796053364
LitVarrs796053364
Maprs796053364
PheGenIrs796053364
Biobankrs796053364
1000 genomesrs796053364
hgdprs796053364
ensemblrs796053364
geneviewrs796053364
scholarrs796053364
googlers796053364
pharmgkbrs796053364
gwascentralrs796053364
openSNPrs796053364
23andMers796053364
SNPshotrs796053364
SNPdbers796053364
MSV3drs796053364
GWAS Ctlgrs796053364
Max Magnitude0
ClinVar
Risk rs796053364(T;T)
Alt rs796053364(T;T)
Reference Rs796053364(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130435459G>T
CLNSRC
CLNACC RCV000189609.1,