RS201804130 EP300

Health Risk Chr 22:41125906
Upload your DNA to see your genotype for this variant.
Associated Conditions
Inborn genetic diseases
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 2
Colorectal cancer
Inborn genetic diseases
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 2
Colorectal cancer
Other Variants in EP300
rs137853038 rs28937578 rs137853039 rs1569108381 rs1569122847 rs1569090642 rs201054979 rs587778255 rs149456776 rs886037664
Ask Dr. Hemsworth about this variant