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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
ebirs20551
HLIrs20551
Exacrs20551
Varsomers20551
Maprs20551
PheGenIrs20551
hapmaprs20551
1000 genomesrs20551
hgdprs20551
ensemblrs20551
gopubmedrs20551
geneviewrs20551
scholarrs20551
googlers20551
pharmgkbrs20551
gwascentralrs20551
openSNPrs20551
23andMers20551
23andMe allrs20551
SNP Nexus

SNPshotrs20551
SNPdbers20551
MSV3drs20551
GWAS Ctlgrs20551
GMAF0.2103
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene EP300
allele G
frequency 0.35
sift TOLERATED
HuRef 1103691047665
Disease Association Chromosomal aberrations involving EP300 may be a cause of acute myeloid leukemias. Translocation t(8;22)(p11;q13) with MYST3.



[PMID 22231458] A constitutional variant in the transcription factor EP300 strongly influences the clinical outcome of patients submitted to allo-SCT


GET Evidence
EP300-I997V
aa_change Ile997Val
aa_change_short I997V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.206823
summary



ClinVar
Risk rs20551(G;G)
Alt rs20551(G;G)
Reference rs20551(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene EP300
CLNDBN not specified
Reversed 0
HGVS NC_000022.10:g.41548008A>G
CLNSRC ClinVar Emory University University of Chicago
CLNACC RCV000079673.6,