rs62645926, PRPH2

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.
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
53 0.851 0.080 6 42721784 missense variant T/G snv 0.010 1.000 1 1996 1996
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
51 0.851 0.080 6 42721784 missense variant T/G snv 0.010 1.000 1 1996 1996
Rod dystrophy
CUI: C0730366
Disease: Rod dystrophy
2 0.851 0.080 6 42721784 missense variant T/G snv 0.010 1.000 1 1996 1996
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
33 0.851 0.080 6 42721784 missense variant T/G snv 0.010 1.000 1 1996 1996