rs398123575, EYS

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 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05 0.700 1.000 1 2016 2016
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 1.000 0.080 6 63864319 stop gained A/C snv 1.9E-05 4.2E-05 0.700 1.000 1 2010 2010