rs56010818, CYP1B1

N. diseases: 2
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 0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05 0.700 1.000 20 1998 2008
Primary congenital glaucoma
CUI: C1533041
Disease: Primary congenital glaucoma
25 0.925 0.120 2 38071185 missense variant C/T snv 9.2E-05 7.7E-05 0.010 1.000 1 2009 2009