rs72547543, CHST6

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.
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
54 1.000 0.080 16 75479446 missense variant G/A snv 0.710 1.000 1 2006 2006