BMP1, bone morphogenetic protein 1, 649

N. diseases: 121; N. variants: 17
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: rs121917835
rs121917835 		0.925 0.040 8 22164010 missense variant T/A snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 5 2002 2005
dbSNP: rs121918559
rs121918559 		1.000 0.040 8 22163458 missense variant C/A snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 5 2002 2005
dbSNP: rs318240762
rs318240762 		0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 1.000 3 2012 2015
dbSNP: rs398122891
rs398122891 		1.000 8 22177868 missense variant C/G snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 1.000 3 2012 2015
dbSNP: rs786205219
rs786205219 		1.000 8 22177929 missense variant A/G snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.800 0
dbSNP: rs34957318
rs34957318 		0.925 0.080 8 22163947 missense variant G/A snv 1.1E-03 4.3E-03
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.700 1.000 5 2002 2005
dbSNP: rs6984210
rs6984210 		1.000 0.040 8 22176102 intron variant C/G snv 6.6E-02 0.10
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs73225842
rs73225842 		1.000 0.040 8 22172552 intron variant C/T snv 4.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121918560
rs121918560 		1.000 0.040 8 22164028 missense variant T/C snv
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.700 0
dbSNP: rs786205217
rs786205217 		1.000 8 22201444 3 prime UTR variant T/C snv 7.0E-06
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0
dbSNP: rs786205218
rs786205218 		1.000 8 22197420 missense variant G/C snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0
dbSNP: rs786205220
rs786205220 		1.000 8 22194174 missense variant G/T snv
CUI: C3553887
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIII
OSTEOGENESIS IMPERFECTA, TYPE XIII 		0.700 0
dbSNP: rs1124
rs1124 		0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1124
rs1124 		0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1124
rs1124 		0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121917835
rs121917835 		0.925 0.040 8 22164010 missense variant T/A snv
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1451499324
rs1451499324 		0.925 0.080 8 22163902 missense variant C/G snv 8.1E-06 1.4E-05
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1451499324
rs1451499324 		0.925 0.080 8 22163902 missense variant C/G snv 8.1E-06 1.4E-05
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs201933678
rs201933678 		8 22163196 stop gained C/A snv 1.6E-05 2.1E-05
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs318240762
rs318240762 		0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs34957318
rs34957318 		0.925 0.080 8 22163947 missense variant G/A snv 1.1E-03 4.3E-03
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs370068089
rs370068089 		1.000 0.080 8 22164041 stop lost G/C snv 5.6E-05
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs752593536
rs752593536 		1.000 8 22163908 missense variant C/T snv 4.0E-06
CUI: C3274519
Disease: Surfactant Protein C Deficiency
Surfactant Protein C Deficiency 		0.010 < 0.001 1 2015 2015