rs267607017, RP1L1

N. diseases: 4
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.
OCCULT MACULAR DYSTROPHY
CUI: C3150833
Disease: OCCULT MACULAR DYSTROPHY
4 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.830 1.000 4 2010 2016
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
Hereditary macular dystrophy
CUI: C0339508
Disease: Hereditary macular dystrophy
10 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.851 0.080 8 10623069 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2018 2018