rs429608 (associated with C2 and complement factor B [32] is 133,373 bp upstream from the DMR within TNXB. rs3130783, associated with GTF2H4, is 105,549 bp upstream of the CpG site and has also been identified as an AMD-associated disease locus [32]. Here, GTF2H4 is linked to age-related macular degeneration.