rs766550724, COL4A4

N. diseases: 3
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.
Alport Syndrome, X-Linked
CUI: C1567742
Disease: Alport Syndrome, X-Linked
8 0.882 0.280 2 227007354 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
Andersen Syndrome
CUI: C1563715
Disease: Andersen Syndrome
38 0.882 0.280 2 227007354 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012
ARTERIAL TORTUOSITY SYNDROME
CUI: C1859726
Disease: ARTERIAL TORTUOSITY SYNDROME
23 0.882 0.280 2 227007354 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2012 2012