rs62635004, RPGR

N. diseases: 2
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 0.925 0.080 X 38297391 missense variant C/T snv 0.700 1.000 14 1996 2014
X-linked retinitis pigmentosa
CUI: C0339528
Disease: X-linked retinitis pigmentosa
7 0.925 0.080 X 38297391 missense variant C/T snv 0.010 1.000 1 2006 2006