CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) ×
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: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.800 1.000 5 2003 2015
dbSNP: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs1410996
rs1410996 		0.807 0.240 1 196727803 intron variant G/A snv 0.46
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs2274700
rs2274700 		0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0
dbSNP: rs570523689
rs570523689 		1.000 0.040 1 196713905 missense variant C/G;T snv 2.0E-05; 8.0E-06
CUI: C1853147
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (disorder)
MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 		Eye Diseases 0.700 0