CFH, complement factor H, 3075

N. diseases: 393; N. variants: 150
Disease: Drusen ×
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: C1260959
Disease: Drusen
Drusen 		0.050 1.000 5 2008 2015
dbSNP: rs121913059
rs121913059 		0.716 0.280 1 196747245 missense variant C/T snv 1.4E-04 1.9E-04
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2015 2015
dbSNP: rs570618
rs570618 		0.827 0.040 1 196687934 intron variant T/G snv 0.69
CUI: C1260959
Disease: Drusen
Drusen 		0.010 1.000 1 2018 2018