rs1568406407, LTBP4

N. diseases: 4
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 0.925 0.280 19 40611169 stop gained C/T snv 0.700 0
Genu recurvatum
CUI: C0546964
Disease: Genu recurvatum
4 0.925 0.280 19 40611169 stop gained C/T snv 0.700 0
Skin Wrinkling
CUI: C0037301
Disease: Skin Wrinkling
1 0.925 0.280 19 40611169 stop gained C/T snv 0.700 0
Umbilical hernia
CUI: C0019322
Disease: Umbilical hernia
17 0.925 0.280 19 40611169 stop gained C/T snv 0.700 0