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