BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: OROFACIAL CLEFT 11 ×
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: rs121912766
rs121912766 		1.000 0.120 14 53950222 missense variant G/A snv
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121912767
rs121912767 		1.000 0.120 14 53951951 missense variant G/C snv 1.8E-04 1.7E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121912768
rs121912768 		1.000 0.120 14 53950399 missense variant C/A;T snv 8.2E-04
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2009 2009
dbSNP: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs770493925
rs770493925 		1.000 0.120 14 53950774 missense variant C/T snv 1.8E-04 4.2E-05
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0