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: rs111843364
rs111843364 		16 70923707 intron variant G/A snv 3.8E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs12149261
rs12149261 		16 70964242 intron variant C/A snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2011 2011
dbSNP: rs62039170
rs62039170 		16 71051768 intron variant T/C snv 2.7E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1567744830
rs1567744830 		0.925 0.120 16 70874437 stop gained C/A snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1567744830
rs1567744830 		0.925 0.120 16 70874437 stop gained C/A snv
CUI: C4025279
Disease: Respiratory failure requiring assisted ventilation
Respiratory failure requiring assisted ventilation 		Respiratory Tract Diseases 0.700 0
dbSNP: rs1567744830
rs1567744830 		0.925 0.120 16 70874437 stop gained C/A snv
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs373501414
rs373501414 		1.000 0.120 16 70991397 splice acceptor variant C/A;T snv 1.6E-05; 8.0E-06
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397515413
rs397515413 		0.925 0.160 16 70988133 missense variant C/A snv
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515413
rs397515413 		0.925 0.160 16 70988133 missense variant C/A snv
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397515414
rs397515414 		0.882 0.160 16 71137272 stop gained T/A snv
CUI: C1837615
Disease: Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs397515414
rs397515414 		0.882 0.160 16 71137272 stop gained T/A snv
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397515414
rs397515414 		0.882 0.160 16 71137272 stop gained T/A snv
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2012 2012