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: 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: 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: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0034088
Disease: Pulmonary Valve Insufficiency
Pulmonary Valve Insufficiency 		Cardiovascular Diseases 0.700 0
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs149989682
rs149989682 		0.790 0.240 16 2317763 missense variant T/A;C snv 2.3E-03
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		Respiratory Tract Diseases 0.700 0
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: 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: 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: 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: 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