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: rs876657633
rs876657633 		1.000 0.120 16 2300001 splice donor variant GCACCTT/TGG delins
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 1.000 2 2008 2014
dbSNP: rs121909182
rs121909182 		1.000 0.040 16 2326027 missense variant A/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121909183
rs121909183 		1.000 0.040 16 2278348 missense variant A/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121909184
rs121909184 		1.000 0.040 16 2299442 missense variant T/C snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.800 1.000 1 2004 2004
dbSNP: rs17135889
rs17135889 		0.925 0.080 16 2337259 intron variant G/A snv 0.11
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17135889
rs17135889 		0.925 0.080 16 2337259 intron variant G/A snv 0.11
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 2016 2016
dbSNP: rs2238464
rs2238464 		16 2282576 intron variant C/T snv 0.25
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs28936691
rs28936691 		1.000 0.040 16 2278016 missense variant T/G snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.800 1.000 1 2004 2004
dbSNP: rs45452892
rs45452892 		16 2284162 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs879159551
rs879159551 		16 2319811 missense variant G/T snv
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121909181
rs121909181 		1.000 0.040 16 2285499 stop gained C/T snv 1.4E-05
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1567335355
rs1567335355 		1.000 0.040 16 2277878 splice donor variant C/T snv
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.700 0
dbSNP: rs775903641
rs775903641 		1.000 0.040 16 2319633 frameshift variant TGTAG/- delins 7.0E-06
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.700 0
dbSNP: rs323043
rs323043 		1.000 0.080 16 2298527 synonymous variant G/A;C;T snv 8.0E-06; 0.14; 4.0E-06
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 2012 2012
dbSNP: rs773223403
rs773223403 		1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs773223403
rs773223403 		1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs773223403
rs773223403 		1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.700 0
dbSNP: rs313909
rs313909 		1.000 0.080 16 2287992 intron variant G/A;C snv 0.42; 4.3E-06
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs748819386
rs748819386 		1.000 0.040 16 2295596 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs768483175
rs768483175 		16 2319832 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200090198
rs200090198 		1.000 0.040 16 2326214 missense variant G/A;C;T snv 7.2E-05; 2.5E-04
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs201955122
rs201955122 		1.000 0.040 16 2279097 missense variant C/T snv 1.2E-04 7.0E-05
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs549977217
rs549977217 		16 2284869 missense variant C/T snv 4.6E-04 1.0E-04
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 1.000 16 2005 2014
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		Respiratory Tract Diseases 0.700 1.000 10 2005 2018