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rs20551

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs20551(A;G)
Make rs20551(G;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position41152004
GeneEP300
is asnp
is mentioned by
dbSNPrs20551
dbSNP (old)rs20551
ClinGenrs20551
ebirs20551
HLIrs20551
Exacrs20551
Gnomadrs20551
Varsomers20551
Maprs20551
PheGenIrs20551
Biobankrs20551
1000 genomesrs20551
hgdprs20551
ensemblrs20551
gopubmedrs20551
geneviewrs20551
scholarrs20551
googlers20551
pharmgkbrs20551
gwascentralrs20551
openSNPrs20551
23andMers20551
23andMe allrs20551
SNPshotrs20551
SNPdbers20551
MSV3drs20551
GWAS Ctlgrs20551
GMAF0.2103
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 22231458] A constitutional variant in the transcription factor EP300 strongly influences the clinical outcome of patients submitted to allo-SCT



ClinVar
Risk rs20551(G;G)
Alt rs20551(G;G)
Reference Rs20551(A;A)
Significance Non-pathogenic
Disease not specified Rubinstein-Taybi syndrome
Variation info
Gene EP300
CLNDBN not specified Rubinstein-Taybi syndrome
Reversed 0
HGVS NC_000022.10:g.41548008A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000079673.7, RCV000293642.1,