rs62636273, CRB1

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.
Macular dystrophy
CUI: C0730292
Disease: Macular dystrophy
59 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 1.000 2 2004 2018
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 0
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.882 0.080 1 197429460 stop gained T/A;C snv 3.2E-05 0.700 0