rs61750138, 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 1.000 1 94030991 splice region variant C/A;T snv 1.2E-05 0.700 1.000 4 1999 2017
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 1 94030991 splice region variant C/A;T snv 1.2E-05 0.700 1.000 1 2000 2000
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
24 1.000 1 94030991 splice region variant C/A;T snv 1.2E-05 0.700 0