BMPER, BMP binding endothelial regulator, 168667

N. diseases: 75; N. variants: 12
Disease: Diaphanospondylodysostosis ×
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: rs387906993
rs387906993 		1.000 0.080 7 34078887 missense variant C/T snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2010 2010
dbSNP: rs1554300601
rs1554300601 		1.000 0.080 7 33970336 missense variant T/A snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs387906992
rs387906992 		1.000 0.080 7 34055301 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs387906994
rs387906994 		1.000 0.080 7 34085985 stop gained T/A snv
CUI: C1842691
Disease: Diaphanospondylodysostosis
Diaphanospondylodysostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0