. 2016 Aug 30;6:31531. doi: 10.1038/srep31531

Table 3. Rare variants in CFH reported to be associated with age-related macular degeneration in families.

hg19 Position	SNP ID	Amino Acid Consequence	CCP	Function
1:196642206	NA	R53C	1	Normal FH levels; Decreases the ability of FH to perform decay accelerating activity¹⁶
1:196643011	NA	D90G	2	Normal serum FH levels; Decreases cofactor-mediated inactivation¹⁶
1:196645148	rs121913058	R127H	2	Low serum FH levels; Haploinsufficiency of serum FH
1:196646702	rs139360826	R175P	3	Low serum FH levels; Haploinsufficiency of serum FH
1:196646753	NA	C192F	3	Low serum FH levels; Haploinsufficiency of serum FH
1:196648924	NA	NA (Splice variant)	4	Low serum FH levels; Truncation of protein; Low levels of FH secreted from cell and haploinsufficiency of serum FH
1:196683035	rs570523689	P503A	8	May affect C3b binding affinity¹⁷
1:196716375	rs121913059	R1210C	20	Defective binding to C3d, C3b, heparin/glycosaminoglycans, and endothelial cells²⁶,²⁷,²⁸,²⁹