rs137852550, RPGR

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 3
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
31 0.882 0.280 X 38317418 missense variant C/G snv 0.700 1.000 14 1996 2014
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
CUI: C2749137
Disease: Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
2 0.882 0.280 X 38317418 missense variant C/G snv 0.700 1.000 2 2003 2003
RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
CUI: C4016579
Disease: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
1 0.882 0.280 X 38317418 missense variant C/G snv 0.700 0