rs752785520, 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 75479180 missense variant C/T snv 4.2E-06 0.710 1.000 1 2003 2003
Macular corneal dystrophy
CUI: C0024439
Disease: Macular corneal dystrophy
2 0.925 0.080 16 75479180 missense variant C/T snv 4.2E-06 0.010 1.000 1 2007 2007