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: rs1124
rs1124
0.882 0.160 8 22164004 missense variant G/A snv 0.30 0.26
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121917834
rs121917834
0.790 0.080 8 22163096 missense variant T/A;C snv 3.6E-05
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs370068089
rs370068089
1.000 0.080 8 22164041 stop lost G/C snv 5.6E-05
Respiratory Distress Syndrome, Newborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017