rs61755798, PRPH2

N. diseases: 6
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.
Adult-Onset Vitelliform Macular Dystrophy
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
16 0.827 0.080 6 42704564 missense variant G/A;C snv 0.710 1.000 1 2006 2006
MACULAR DYSTROPHY, PATTERNED, 1
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
16 0.827 0.080 6 42704564 missense variant G/A;C snv 0.700 0
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
22 0.827 0.080 6 42704564 missense variant G/A;C snv 0.700 0
Peripheral retinal degeneration
CUI: C1320640
Disease: Peripheral retinal degeneration
1 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 1995 1995
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
227 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 2001 2001
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.827 0.080 6 42704564 missense variant G/A;C snv 0.010 1.000 1 2001 2001