rs1556313552, RP2

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.
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.925 0.080 X 46837202 splice region variant G/A snv 0.700 0
RETINITIS PIGMENTOSA 3
CUI: C1845667
Disease: RETINITIS PIGMENTOSA 3
31 0.925 0.080 X 46837202 splice region variant G/A snv 0.700 0