OPTC, opticin, 26254

N. diseases: 14; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs116126526
rs116126526
1.000 0.040 1 203503710 missense variant G/A snv 1.2E-03 2.6E-03
CUI: C0271183
Disease: Severe myopia
Severe myopia
Eye Diseases 0.010 1.000 1 2007 2007
dbSNP: rs150633473
rs150633473
1.000 0.040 1 203499804 missense variant C/T snv 6.0E-05 7.7E-05
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2002 2002
dbSNP: rs573018317
rs573018317
1.000 0.040 1 203499805 missense variant G/A snv 6.9E-04 7.7E-05
CUI: C0271183
Disease: Severe myopia
Severe myopia
Eye Diseases 0.010 1.000 1 2007 2007