rs61753046, 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 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 5 2000 2017
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.925 0.040 1 93997932 stop gained G/A;T snv 5.2E-05; 4.0E-06 0.700 1.000 1 2000 2000