Annotations of AAMD-associated sequence variants resident in MAPK pathways.

Note: DNase, DNase hypersensitivity cluster; ENH, histone enhancer mark; Int., variant resident in intron; JNK, genes present in STKE JNK MAPK Pathway (see Tables 1 and S4); PRO, histone promoter mark; RPE, retinal pigment epithelial cell; SNP, single nucleotide polymorphism; SYN, synonymous coding variant; UTR, untranslated region.*Annotations marked with an asterisk are for qualities of sequence variants in nearly complete linkage disequilibrium (r2≥0.80) with the AAMD-associated variant in the SNP column. Full names of genes represented by gene symbols exist at http://www.ncbi.nlm.nih.gov/gene. Information on regulatory features was obtained from HaploReg (www.broadinstitute.org/mammals/haploreg/). Pathway:aKEGG MAPK Signaling Pathway;bBioCarta MAPK Signaling Pathway;cSTKE JNK MAPK Pathway;dSTKE p38 MAPK;eBioCarta p38 MAPK Pathway.