RS142758675 EP300

Health Risk Chr 22:41117546
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Associated Conditions
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Colorectal cancer
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
EP300-related disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Colorectal cancer
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
EP300-related disorder
Other Variants in EP300
rs137853038 rs28937578 rs137853039 rs1569108381 rs1569122847 rs1569090642 rs201054979 rs587778255 rs149456776 rs886037664
Ask Dr. Hemsworth about this variant