rs61748538, 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 1.000 1 94098904 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 19 1997 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 1 94098904 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2001 2001