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: 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
dbSNP: rs13332514
rs13332514 		0.925 0.080 16 2317335 synonymous variant G/A snv 0.17 0.12
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.020 1.000 2 2008 2016
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.020 1.000 2 2008 2012
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.020 1.000 2 2012 2018
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: rs117603931
rs117603931 		0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs117603931
rs117603931 		0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs117603931
rs117603931 		0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03
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: rs117603931
rs117603931 		0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
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: rs13332514
rs13332514 		0.925 0.080 16 2317335 synonymous variant G/A snv 0.17 0.12
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs146709251
rs146709251 		0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs146709251
rs146709251 		0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03
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: rs146709251
rs146709251 		0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0162429
Disease: Malnutrition
Malnutrition 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs170447
rs170447 		1.000 0.080 16 2299370 intron variant T/C snv 0.51 0.45
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: 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: 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