rs139185976, PRPH2

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.
Retinitis Pigmentosa 7
CUI: C1842475
Disease: Retinitis Pigmentosa 7
22 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.700 1.000 11 1991 2016
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.700 1.000 2 1997 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 6 42704570 missense variant C/T snv 4.8E-05 9.8E-05 0.010 1.000 1 1998 1998