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rs796053386

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCA;TCA) 0 common in clinvar
Make rs796053386(-;-)
Make rs796053386(-;CAT)
Make rs796053386(CAT;CAT)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127682472
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053386
dbSNP (classic)rs796053386
ClinGenrs796053386
ebirs796053386
HLIrs796053386
Exacrs796053386
Gnomadrs796053386
Varsomers796053386
LitVarrs796053386
Maprs796053386
PheGenIrs796053386
Biobankrs796053386
1000 genomesrs796053386
hgdprs796053386
ensemblrs796053386
geneviewrs796053386
scholarrs796053386
googlers796053386
pharmgkbrs796053386
gwascentralrs796053386
openSNPrs796053386
23andMers796053386
SNPshotrs796053386
SNPdbers796053386
MSV3drs796053386
GWAS Ctlgrs796053386
Max Magnitude0
ClinVar
Risk rs796053386(-;-)
Alt rs796053386(-;-)
Reference Rs796053386(TCA;TCA)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130444751_130444753delCAT
CLNSRC
CLNACC RCV000189636.1,