rs749526785, 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.
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.925 0.080 1 93997842 splice region variant GCCCCAGGGCCAACT/- delins 6.8E-05 0.700 1.000 1 2010 2010
CONE-ROD DYSTROPHY 3 (disorder)
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
53 0.925 0.080 1 93997842 splice region variant GCCCCAGGGCCAACT/- delins 6.8E-05 0.700 0