BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: Cleft upper lip ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10130587
rs10130587 		0.851 0.200 14 53952392 intron variant G/C snv 0.45
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs17563
rs17563 		0.790 0.320 14 53950804 stop lost A/G snv 0.45 0.44
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.010 1.000 1 2018 2018