rs606231160, LTBP4

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
CUI: C2750804
Disease: Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities
10 1.000 0.280 19 40605736 frameshift variant C/- delins 0.700 0