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rs797045559

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045559(-;T)
Make rs797045559(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41176303
GeneEP300
is asnp
is mentioned by
dbSNPrs797045559
ClinGenrs797045559
ebirs797045559
HLIrs797045559
Exacrs797045559
Varsomers797045559
Maprs797045559
PheGenIrs797045559
hapmaprs797045559
1000 genomesrs797045559
hgdprs797045559
ensemblrs797045559
gopubmedrs797045559
geneviewrs797045559
scholarrs797045559
googlers797045559
pharmgkbrs797045559
gwascentralrs797045559
openSNPrs797045559
23andMers797045559
23andMe allrs797045559
SNP Nexus

SNPshotrs797045559
SNPdbers797045559
MSV3drs797045559
GWAS Ctlgrs797045559
Max Magnitude0
ClinVar
Risk rs797045559(T;T)
Alt rs797045559(T;T)
Reference Rs797045559(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41572307dupT
CLNSRC
CLNACC RCV000194142.1,