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: 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: 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: rs146709251
rs146709251
0.882 0.080 16 2279070 missense variant G/A snv 4.3E-03 3.0E-03
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs170447
rs170447
1.000 0.080 16 2299370 intron variant T/C snv 0.51 0.45
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
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs313909
rs313909
1.000 0.080 16 2287992 intron variant G/A;C snv 0.42; 4.3E-06
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs323043
rs323043
1.000 0.080 16 2298527 synonymous variant G/A;C;T snv 8.0E-06; 0.14; 4.0E-06
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2012 2012