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Table 2 Coding variants in novel AMD-associated loci

From: Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Variant Top variant Chromosome Position [hg19] r2 to top variant Frequency of variant Affected gene Consequence Phenotype Locus name Locus boundary in 1 M bp [hg19]
rs6683902 rs7523273 1 207881557 0.545 0.563 CR1L p.I455V SCZ CD46/CR1L 207.8–208.1
rs2796257 rs7523273 1 207890866 0.549 0.434 CR1L p.L491P SCZ CD46/CR1L 207.8–208.1
rs1550094 rs1550094 2 233385396 1.000 0.310 PRSS56 p.A30T MYP PRSS56 233.3–233.5
rs9860801 rs9844666 3 136088038 0.547 0.302 STAG1 p.F403F HGT STAG1 135.5–136.9
rs1052620 rs9844666 3 136574521 0.956 0.189 SLC35G2 p.L407L HGT STAG1 135.5–136.9
rs1422795 rs2277027 5 156936364 0.996 0.357 ADAM19 p.S17G LGF ADAM19 156.8–157.1
rs943037 rs11191548 10 104835919 0.988 0.088 CNNM2 p.A770A BP NT5C2 104.4–105.2
rs584961 rs634552 11 75277628 0.625 0.888 SERPINH1 p.L78L HGT SERPINH1 75.2–75.4
rs12811109 rs11830103 12 123471094 0.838 0.216 PITPNM2 p.H1205H HGT SBNO1 123.3–124
rs1051431 rs11830103 12 123645803 0.878 0.768 MPHOSPH9 p.Y935H HGT SBNO1 123.3–124
rs6488868 rs11830103 12 123799974 0.756 0.722 SBNO1 p.G1022G HGT SBNO1 123.3–124
rs1060105 rs11830103 12 123806219 0.988 0.223 SBNO1 p.S729N HGT SBNO1 123.3–124
rs61388686 rs11830103 12 123810873 0.591 0.664 SBNO1 p.I567I HGT SBNO1 123.3–124
rs12322888 rs11830103 12 123825559 1.000 0.225 SBNO1 p.K209K HGT SBNO1 123.3–124
rs1254319 rs10483727 14 60903757 0.613 0.301 C14orf39 p.L524F ODCA SIX6 60.7–61.3
rs33912345 rs10483727 14 60976537 0.978 0.597 SIX6 p.H141N ODCA SIX6 60.7–61.3
rs117068593 rs11627032 14 93118229 0.565 0.187 RIN3 p.R279C BRC RIN3 60.7–61.3
rs2470890 rs1378942 15 75047426 0.843 0.596 CYP1A2 p.N516N BP CSK 74.9–75.3
rs4886615 rs1378942 15 75131661 0.553 0.691 ULK3 p.A302A BP CSK 74.9–75.3
rs907092 rs2290400 17 37922259 0.761 0.473 IKZF3 p.S399S T1D GSDMB 37.8–38.2
rs11557466 rs2290400 17 38024626 0.792 0.472 ZPBP2 p.L7L T1D GSDMB 37.8–38.2
rs11557467 rs2290400 17 38028634 0.924 0.508 ZPBP2 p.S55I T1D GSDMB 37.8–38.2
rs10852935 rs2290400 17 38031674 0.792 0.472 ZPBP2 p.C174C T1D GSDMB 37.8–38.2
rs2305480 rs2290400 17 38062196 0.815 0.466 GSDMB p.P302S T1D GSDMB 37.8–38.2
rs2305479 rs2290400 17 38062217 0.948 0.502 GSDMB p.G295R T1D GSDMB 37.8–38.2