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: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1849340
Disease: Long palpebral fissure
Long palpebral fissure 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1859523
Disease: Contractures of the joints of the lower limbs
Contractures of the joints of the lower limbs 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4021810
Disease: Abnormal location of ears
Abnormal location of ears 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		Musculoskeletal Diseases; Wounds and Injuries 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1851833
Disease: Premature birth following premature rupture of fetal membranes
Premature birth following premature rupture of fetal membranes 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0032290
Disease: Aspiration Pneumonia
Aspiration Pneumonia 		Infections; Respiratory Tract Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4021739
Disease: Abnormality of the acetabulum
Abnormality of the acetabulum 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1845019
Disease: Left ventricular septal hypertrophy
Left ventricular septal hypertrophy 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0428851
Disease: Dilatation of pulmonary artery, unspecified
Dilatation of pulmonary artery, unspecified 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1858085
Disease: Malar flattening
Malar flattening 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C1837142
Disease: Poor suck
Poor suck 		0.700 1.000 1 2018 2018
dbSNP: rs1034395178
rs1034395178 		0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2018 2018