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rs139310551

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139310551(A;A)
Make rs139310551(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome22
Position41176400
GeneEP300
is asnp
is mentioned by
dbSNPrs139310551
ebirs139310551
HLIrs139310551
Exacrs139310551
Varsomers139310551
Maprs139310551
PheGenIrs139310551
hapmaprs139310551
1000 genomesrs139310551
hgdprs139310551
ensemblrs139310551
gopubmedrs139310551
geneviewrs139310551
scholarrs139310551
googlers139310551
pharmgkbrs139310551
gwascentralrs139310551
openSNPrs139310551
23andMers139310551
23andMe allrs139310551
SNP Nexus

SNPshotrs139310551
SNPdbers139310551
MSV3drs139310551
GWAS Ctlgrs139310551
Max Magnitude0
ClinVar
Risk rs139310551(A,T;A,T)
Alt rs139310551(A,T;A,T)
Reference rs139310551(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41572404C>T
CLNSRC
CLNACC RCV000162342.1,