rs121909216, TGFBI

N. diseases: 3
Source: BEFREE ×
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.
Corneal dystrophy, epithelial basement membrane
CUI: C0521723
Disease: Corneal dystrophy, epithelial basement membrane
2 0.882 0.200 5 136055795 missense variant T/G snv 0.810 1.000 1 2006 2011
Epithelial basement membrane dystrophy
CUI: C0271285
Disease: Epithelial basement membrane dystrophy
2 0.882 0.200 5 136055795 missense variant T/G snv 0.010 1.000 1 2011 2011
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.882 0.200 5 136055795 missense variant T/G snv 0.010 1.000 1 2011 2011