rs61749423, ABCA4

N. diseases: 3
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 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 7 1999 2017
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 1 1999 1999
Macular dystrophy, concentric annular
CUI: C1828210
Disease: Macular dystrophy, concentric annular
5 0.925 0.040 1 94060656 stop gained G/A;T snv 8.0E-06; 4.4E-05 0.700 1.000 1 2016 2016