rs606231180, RPGR

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.
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.925 0.080 X 38285902 frameshift variant CC/- delins 0.700 0
CONE-ROD DYSTROPHY, X-LINKED, 1
CUI: C1844776
Disease: CONE-ROD DYSTROPHY, X-LINKED, 1
6 0.925 0.080 X 38285902 frameshift variant CC/- delins 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.925 0.080 X 38285902 frameshift variant CC/- delins 0.700 0