rs62636275, CRB1

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.
LEBER CONGENITAL AMAUROSIS 8
CUI: C3151202
Disease: LEBER CONGENITAL AMAUROSIS 8
42 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.800 1.000 27 2001 2017
RETINITIS PIGMENTOSA 12 (disorder)
CUI: C1838647
Disease: RETINITIS PIGMENTOSA 12 (disorder)
38 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.800 1.000 21 1999 2017
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.710 1.000 1 2006 2006
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2006 2006