rs55989760, CYP1B1

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.
GLAUCOMA 3, PRIMARY CONGENITAL, A
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
34 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.800 1.000 20 1998 2008
Glaucoma of childhood
CUI: C2981140
Disease: Glaucoma of childhood
15 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.700 1.000 15 1998 2016
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.882 0.120 2 38071195 missense variant C/G;T snv 2.9E-04 0.010 1.000 1 2008 2008