Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA ×
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: rs151341424
rs151341424 		0.925 0.120 15 74190856 missense variant CC/TT mnv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.810 1.000 4 2007 2011
dbSNP: rs144691445
rs144691445 		1.000 0.120 15 74180171 missense variant C/A;G;T snv 1.6E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs869025269
rs869025269 		1.000 0.120 15 74182448 missense variant T/C snv 8.3E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs118203958
rs118203958 		1.000 0.120 15 74190889 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs118203959
rs118203959 		1.000 0.120 15 74180121 missense variant G/A snv 1.6E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs118203960
rs118203960 		1.000 0.120 15 74180153 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs118203961
rs118203961 		1.000 0.120 15 74196145 missense variant G/A snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs118203962
rs118203962 		1.000 0.120 15 74189244 missense variant T/G snv 5.4E-04 4.1E-04
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1555457882
rs1555457882 		1.000 0.120 15 74202151 splice region variant TT/- del
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1555457919
rs1555457919 		1.000 0.120 15 74202231 frameshift variant -/G;GG delins
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1567177198
rs1567177198 		1.000 0.120 15 74181302 frameshift variant -/A delins
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs267607096
rs267607096 		1.000 0.120 15 74202199 stop gained C/T snv 5.6E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs397514638
rs397514638 		1.000 0.120 15 74181301 missense variant C/G;T snv 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs397514639
rs397514639 		1.000 0.120 15 74180120 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs397518484
rs397518484 		1.000 0.120 15 74181459 splice acceptor variant C/T snv 7.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231125
rs606231125 		1.000 0.120 15 74197785 frameshift variant G/- delins
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231126
rs606231126 		1.000 0.120 15 74202216 frameshift variant AGT/GG delins 1.6E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231127
rs606231127 		1.000 0.120 15 74195371 frameshift variant -/C delins 4.0E-06; 8.0E-06; 4.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs772134481
rs772134481 		1.000 0.120 15 74197360 missense variant G/A;T snv 3.3E-05; 6.5E-06; 6.5E-06 2.8E-05
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013