Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities ×
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: rs267607229
rs267607229 		1.000 0.280 19 40605768 missense variant T/G snv
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.800 1.000 1 2009 2009
dbSNP: rs747013505
rs747013505 		1.000 0.280 19 40600091 frameshift variant T/- del 9.8E-05
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 1.000 2 2009 2013
dbSNP: rs606231161
rs606231161 		1.000 0.280 19 40627021 frameshift variant C/-;CC delins
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1382026467
rs1382026467 		1.000 0.280 19 40627028 stop gained C/A;T snv 7.0E-06
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1568406407
rs1568406407 		0.925 0.280 19 40611169 stop gained C/T snv
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs267607228
rs267607228 		1.000 0.280 19 40613453 stop gained C/A snv 4.4E-06
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs397515430
rs397515430 		1.000 0.280 19 40608315 stop gained C/T snv 4.0E-06 7.0E-06
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231159
rs606231159 		1.000 0.280 19 40622647 frameshift variant A/- del
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs606231160
rs606231160 		1.000 0.280 19 40605736 frameshift variant C/- delins
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs797044471
rs797044471 		1.000 0.280 19 40627013 frameshift variant -/C delins
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases 0.700 0