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rs796053384

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs796053384(-;TCGTCCC)
Make rs796053384(TCGTCCC;TCGTCCC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127675868
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053384
dbSNP (classic)rs796053384
ClinGenrs796053384
ebirs796053384
HLIrs796053384
Exacrs796053384
Gnomadrs796053384
Varsomers796053384
LitVarrs796053384
Maprs796053384
PheGenIrs796053384
Biobankrs796053384
1000 genomesrs796053384
hgdprs796053384
ensemblrs796053384
geneviewrs796053384
scholarrs796053384
googlers796053384
pharmgkbrs796053384
gwascentralrs796053384
openSNPrs796053384
23andMers796053384
SNPshotrs796053384
SNPdbers796053384
MSV3drs796053384
GWAS Ctlgrs796053384
Max Magnitude0
ClinVar
Risk rs796053384(TCGTCCC;TCGTCCC)
Alt rs796053384(TCGTCCC;TCGTCCC)
Reference Rs796053384(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130438141_130438147dupTCGTCCC
CLNSRC
CLNACC RCV000189634.1,