SFTPC, surfactant protein C, 6440

N. diseases: 132; N. variants: 14
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: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C1970470
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder)
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 		Respiratory Tract Diseases 0.800 1.000 6 2002 2009
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: rs121917836
rs121917836 		0.882 0.040 8 22162727 missense variant G/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: 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: 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: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C4024967
Disease: Congenital peripheral neuropathy
Congenital peripheral neuropathy 		0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect 		0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C3806604
Disease: Infantile axial hypotonia
Infantile axial hypotonia 		0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1563221666
rs1563221666 		0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.040 1.000 4 2004 2019
dbSNP: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.030 1.000 3 2005 2009
dbSNP: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.030 1.000 3 2010 2019
dbSNP: rs121917834
rs121917834 		0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		Respiratory Tract Diseases 0.020 1.000 2 2004 2016
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