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rs796053383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs796053383(-;-)
Make rs796053383(-;GT)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position127668182
GeneSTXBP1
is asnp
is mentioned by
dbSNPrs796053383
dbSNP (classic)rs796053383
ClinGenrs796053383
ebirs796053383
HLIrs796053383
Exacrs796053383
Gnomadrs796053383
Varsomers796053383
LitVarrs796053383
Maprs796053383
PheGenIrs796053383
Biobankrs796053383
1000 genomesrs796053383
hgdprs796053383
ensemblrs796053383
geneviewrs796053383
scholarrs796053383
googlers796053383
pharmgkbrs796053383
gwascentralrs796053383
openSNPrs796053383
23andMers796053383
SNPshotrs796053383
SNPdbers796053383
MSV3drs796053383
GWAS Ctlgrs796053383
Max Magnitude0
ClinVar
Risk rs796053383(-;-)
Alt rs796053383(-;-)
Reference Rs796053383(GT;GT)
Significance Pathogenic
Disease not provided
Variation info
Gene STXBP1
CLNDBN not provided
Reversed 0
HGVS NC_000009.11:g.130430461_130430462delGT
CLNSRC
CLNACC RCV000189633.1,