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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs45452892
rs45452892 		16 2284162 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019