SFTPB, surfactant protein B, 6439

N. diseases: 108; N. variants: 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: rs137853202
rs137853202 		1.000 0.040 2 85663814 missense variant G/A snv 2.9E-05 1.5E-04
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.800 1.000 1 1995 1995
dbSNP: rs779795223
rs779795223 		1.000 0.040 2 85666648 frameshift variant -/TT ins 2.2E-04 2.4E-04
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 1.000 4 1994 2015
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1553380888
rs1553380888 		1.000 0.040 2 85665723 synonymous variant C/A snv
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1558572491
rs1558572491 		1.000 0.040 2 85661536 splice acceptor variant C/T snv
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs35328240
rs35328240 		1.000 0.040 2 85666649 frameshift variant G/TTC delins
CUI: C1968602
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 1
Surfactant Metabolism Dysfunction, Pulmonary, 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.030 1.000 3 2000 2006
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.030 0.667 3 2005 2014
dbSNP: rs3024791
rs3024791 		1.000 0.040 2 85668581 intron variant C/T snv 0.17
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 0.500 2 2008 2011
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0231796
Disease: respiratory abnormalities
respiratory abnormalities 		Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0032285
Disease: Pneumonia
Pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1130866
rs1130866 		0.827 0.160 2 85666618 missense variant G/A;C snv 0.50
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2077079
rs2077079 		0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39
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: rs2077079
rs2077079 		0.925 0.120 2 85668215 missense variant T/G snv 0.41 0.39
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3024798
rs3024798 		1.000 0.120 2 85667185 splice region variant G/A;T snv 0.36
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: rs7316
rs7316 		0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7316
rs7316 		0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14
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: rs7316
rs7316 		0.882 0.160 2 85658890 3 prime UTR variant T/C snv 0.14
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 2018 2018
dbSNP: rs9752
rs9752 		1.000 0.080 2 85659544 3 prime UTR variant G/C snv 0.46
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2019 2019