CFHR1, complement factor H related 1, 3078

N. diseases: 90; N. variants: 4
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: rs432007
rs432007 		1.000 0.040 1 196823334 intron variant A/C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs436719
rs436719 		1.000 0.040 1 196818614 upstream gene variant T/G snv 0.43
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs438781
rs438781 		1.000 0.040 1 196827110 intron variant T/A snv 0.49
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs390679
rs390679 		1.000 0.040 1 196832060 3 prime UTR variant C/A snv 0.42
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2017 2017