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.
CATARACT 4, MULTIPLE TYPES
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
6 0.925 0.040 2 208124188 missense variant C/T snv 0.800 1.000 11 1999 2011
CATARACT, CRYSTALLINE ACULEIFORM
CUI: C1861832
Disease: CATARACT, CRYSTALLINE ACULEIFORM
4 0.925 0.040 2 208124188 missense variant C/T snv 0.700 1.000 1 1999 1999
Cataract
CUI: C0086543
Disease: Cataract
124 0.925 0.040 2 208124188 missense variant C/T snv 0.030 1.000 3 2005 2018