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, AUTOSOMAL DOMINANT
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
10 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.800 1.000 7 1998 2013
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008
Cataract
CUI: C0086543
Disease: Cataract
124 0.882 0.040 21 43169244 missense variant C/T snv 8.0E-06 0.010 1.000 1 2008 2008