rs72547544, 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 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.800 0
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.925 0.080 16 75479500 missense variant T/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014