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 43170619 missense variant G/A snv 0.700 0
Cataract
CUI: C0086543
Disease: Cataract
124 0.882 0.040 21 43170619 missense variant G/A snv 0.020 1.000 2 2006 2019
Presenile cataract
CUI: C0154971
Disease: Presenile cataract
2 0.882 0.040 21 43170619 missense variant G/A snv 0.010 1.000 1 2019 2019