rs28933990, RLBP1

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.
Bothnia Retinal Dystrophy
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
2 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.800 1.000 1 1999 1999
Retinitis punctata albescens (disorder)
10 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.710 1.000 1 2012 2012
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.700 0
Autosomal recessive retinitis pigmentosa
31 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.020 1.000 2 2001 2008