rs709932, SERPINA1

N. diseases: 3
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.
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
14 0.882 0.160 14 94382864 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2009 2009
Corneal dystrophy
CUI: C0010036
Disease: Corneal dystrophy
25 0.882 0.160 14 94382864 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2009 2009
Familial Amyloid Polyneuropathy, Type V
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
19 0.882 0.160 14 94382864 missense variant C/T snv 0.16 0.12 0.010 1.000 1 2009 2009