rs1553192726, 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.
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 1.000 0.080 1 94063315 stop gained G/T snv 0.700 1.000 1 2015 2015