Evaluation of variants in the selectin genes in age-related macular degeneration

Mullins, Robert F; Skeie, Jessica M; Folk, James C; Solivan-Timpe, Frances M; Oetting, Thomas A; Huang, Jian; Wang, Kai; Stone, Edwin M; Fingert, John H

doi:10.1186/1471-2350-12-58

BMC Medical Genetics

Table 1 SNPs evaluated in SELE, SELL and SELP.

From: Evaluation of variants in the selectin genes in age-related macular degeneration

Gene	rs ID	Affect on encoded protein	Position on chromosome 1	Spacing (bp)	MAF (AMD cohort)	MAF (NL cohort)	MAF (HapMap CEU)	HWE (p-value)	P-values
									Allele frequencies	Genotype frequencies
SELE	rs4786	-	167,958,756		0.23	0.22	0.24	0.39	0.66	0.74
SELE	rs3917438	-	167,960,474	1,718	0.068	0.055	0.05	0.050	0.33	0.27
SELE	rs5368	His468Tyr	167,963,570	3,096	0.099	0.094	0.08	0.39	0.79	0.92
SELE	rs2076059	-	167,965,545	1,975	0.42	0.42	0.44	0.019	>0.99	0.51
SELE	rs3917454	-	167,967,477	1,932	0.030	0.032	0.051	0.63	0.88	0.53
SELE	rs5361	Ser149Arg	167,967,684	207	0.097	0.11	0.092	0.049	0.39	0.54
SELE	rs12408179	-	167,974,751	7,067	0.15	0.17	0.17	0.24	0.66	0.46
SELL	rs909628	-	167,927,289		0.090	0.11	0.092	>0.99	0.33	0.51
SELL	rs2298902	-	167,929,703	2,414	0.11	0.11	0.12	0.25	>0.99	0.85
SELL	rs2223286	-	167,932,256	2,553	0.32	0.31	0.27	0.17	0.61	0.48
SELL	rs4987351	-	167,933,979	1,723	0.48	0.50	0.45	0.017	0.49	0.23
SELL	rs2298900	-	167,935,644	1,665	0.33	0.34	0.36	0.080	0.78	0.65
SELL	rs2298899	-	167,936,356	712	0.093	0.083	0.075	0.26	0.52	0.64
SELL	rs4987318	-	167,938,102	1,746	0.23	0.22	0.2	0.34	0.66	0.82
SELP	rs3917843	-	167,826,881		0.043	0.041	0.05	>0.99	0.90	0.78
SELP	rs17522707	-	167,829,686	2,805	0.097	0.095	0.058	0.081	0.85	0.29
SELP	rs6136	Thr756Pro	167,830,575	889	0.10	0.11	0.092	0.086	0.55	0.45
SELP	rs1569471	-	167,830,754	179	0.22	0.21	0.18	0.037	0.61	0.11
SELP	rs6133	Val640Leu	167,831,970	1,216	0.12	0.11	0.12	0.075	0.75	0.36
SELP	rs6127	Asp603Asn	167,832,937	967	0.49	0.44	0.48	0.024	0.11	0.20
SELP	rs3917751	-	167,843,192	10,255	0.31	0.38	0.38	0.25	0.0077	0.018
SELP	rs3917740	-	167,845,890	2,698	0.20	0.21	0.23	0.82	0.70	0.77
SELP	rs3917739	-	167,846,002	112	0.37	0.37	0.33	0.18	0.82	0.72
SELP	rs2235304	-	167,846,377	375	0.051	0.066	0.058	0.10	0.27	0.25
SELP	rs3917734	-	167,847,087	710	0.30	0.29	0.32	0.59	0.73	0.93
SELP	rs6131	Ser331Asn	167,847,509	422	0.16	0.16	0.22	0.58	>0.99	0.62
SELP	rs6125	Val209Met	167,848,941	1,432	0.052	0.050	0.067	0.25	0.90	0.90
SELP	rs3917686	-	167,857,788	8,847	0.11	0.11	0.083	0.13	0.56	0.50
SELP	rs3917682	-	167,858,172	384	0.41	0.40	0.433	0.066	0.75	0.41
SELP	rs3917681	-	167,858,327	155	0.11	0.11	0.125	0.57	0.80	0.86

MAF = Minor allele frequency. HWE = Hardy-Weinberg equilibrium. Reported p-values are uncorrected for multiple measures and those uncorrected p-values < 0.05 are shaded grey. No SNPs produced p-values below the corrected threshold for significance of 0.0042.

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