rs28937879, CHST6

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.
Macular dystrophy, corneal type 1
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
54 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.820 1.000 10 2002 2014
Macular corneal dystrophy Type II (disorder)
CUI: C1691013
Disease: Macular corneal dystrophy Type II (disorder)
2 0.925 0.080 16 75479230 missense variant A/C snv 2.2E-04 2.2E-04 0.700 0