rs121434241, PRPF3

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 18
CUI: C1832378
Disease: Retinitis Pigmentosa 18
3 0.882 0.080 1 150344216 missense variant C/T snv 0.810 1.000 3 2002 2008
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.080 1 150344216 missense variant C/T snv 0.700 0
Autosomal dominant retinitis pigmentosa
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
65 0.882 0.080 1 150344216 missense variant C/T snv 0.020 1.000 2 2004 2010