CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Reticular pseudodrusen ×
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: rs1061170
rs1061170 		0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.040 1.000 4 2016 2019
dbSNP: rs800292
rs800292 		0.645 0.560 1 196673103 missense variant G/A snv 0.32 0.40
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.020 1.000 2 2014 2018
dbSNP: rs2274700
rs2274700 		0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.010 1.000 1 2016 2016
dbSNP: rs393955
rs393955 		0.925 0.040 1 196723340 intron variant C/A snv 0.65
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		0.010 1.000 1 2016 2016