rs779426136, 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 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.700 0
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.925 0.120 1 94041346 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015