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: rs121909182
rs121909182
1.000 0.040 16 2326027 missense variant A/G snv
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
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
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory Tract Diseases 0.800 1.000 1 2004 2004
dbSNP: rs28936691
rs28936691
1.000 0.040 16 2278016 missense variant T/G snv
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory Tract Diseases 0.800 1.000 1 2004 2004
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
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory Tract Diseases 0.700 1.000 10 2005 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: 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
dbSNP: rs121909181
rs121909181
1.000 0.040 16 2285499 stop gained C/T snv 1.4E-05
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory Tract Diseases 0.700 0
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: rs1567335355
rs1567335355
1.000 0.040 16 2277878 splice donor variant C/T snv
Surfactant Metabolism Dysfunction, Pulmonary, 3
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: 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: rs775903641
rs775903641
1.000 0.040 16 2319633 frameshift variant TGTAG/- delins 7.0E-06
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory Tract Diseases 0.700 0
dbSNP: rs13332514
rs13332514
0.925 0.080 16 2317335 synonymous variant G/A snv 0.17 0.12
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
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: rs117603931
rs117603931
0.882 0.080 16 2319591 missense variant C/T snv 5.7E-03 6.5E-03
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
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