rs113106943, ABCA4

N. diseases: 2
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.
STARGARDT DISEASE 1 (disorder)
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
317 0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03 0.700 1.000 2 2015 2017
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.925 0.040 1 94021848 missense variant C/T snv 2.4E-03 2.3E-03 0.700 1.000 1 2013 2013