BMP4, bone morphogenetic protein 4, 652

N. diseases: 423; N. variants: 21
Disease: Anophthalmos ×
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: rs376960358
rs376960358 		1.000 0.080 14 53951861 missense variant T/C snv 3.4E-04 1.5E-04
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs387906597
rs387906597 		0.851 0.280 14 53950667 stop gained G/A;C snv 8.0E-06
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2011 2011