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. 2014 Dec;55(12):2665–2675. doi: 10.1194/jlr.P054163

TABLE 1.

Non-synonymous mutations of the human S1PR1 gene found in the NHLBI GO ESP database

SNP Position Identification Number (rs) Alleles EA Allele Number AA Allele Number Total Allele Number cDNA Position Protein Position Amino Acid
1:101704572 rs61734752 A/C A = 1/C = 7,019 (0.014%) A = 163/C = 3,575 (4.36%) A = 164/C = 10,594 (1.52%) 32 11 Asp/Ala
1:101704577 rs41287280 G/C G = 116/C = 6,904 (1.65%) G = 17/C = 3,721 (0.45%) G = 133/C = 10,625 (1.24%) 37 13 Gly/Arg
1:101704655 rs140298731 A/G A = 0/G = 7,020 (0%) A = 1/G = 3,737 (0.027%) A = 1/G = 10,757 (0.0092%) 115 39 Thr/Ala
1:101704674 rs148977042 C/T C = 2/T = 7,018 (0.028%) C = 2/T = 3,736 (0.054%) C = 4/T = 10,754 (0.037%) 134 45 Thr/Ile
1:101704775 rs370003570 T/C T = 0/C = 7,020 (0%) T = 1/C = 3,737 (0.027%) T = 1/C = 10,757 (0.0092%) 235 79 Ser/Pro
1:101704899 rs149198314 C/G C = 1/G = 7,019 (0.014%) C = 0/G = 3,738 (0%) C = 1/G = 10,757 (0.0092%) 359 120 Pro/Arg
1:101705133 rs370425078 G/A G = 0/A = 7,020 (0%) G = 1/A = 3,737 (0.027%) G = 1/A = 10,757 (0.0092%) 593 198 Cys/Tyr
1:101705252 rs149041375 T/C T = 2/C = 7,018 (0.028%) T = 1/C = 3,737 (0.027%) T = 3/C = 10,755 (0.028%) 712 238 Cys/Arg
1:101705274 rs151135641 A/G A = 0/G = 7,020 (0%) A = 1/G = 3,737 (0.027%) A = 1/G = 10,757 (0.0092%) 734 245 Asn/Ser
1:101705453 rs146890331 T/G T = 1/G = 7,019 (0.014%) T = 0/G = 3,738 (0%) T = 1/G = 10,757 (0.0092%) 913 305 Cys/Gly
1:101705535 rsrs7549921 G/C G = 0/C = 7,020 (0%) G = 2/C = 3,736 (0.054%) G = 2/C = 10,756 (0.019%) 995 332 Arg/Pro
1:101705565 rs138199836 C/G C = 2/G = 7,018 (0.028%) C = 0/G = 3,738 (0%) C = 2/G = 10,756 (0.019%) 1,025 342 Pro/Arg
1:101705579 rs375635245 A/G A = 1/G = 7,019 (0.014%) A = 0/G = 3,734 (0%) A = 1/G = 10,753 (0.0092%) 1,039 347 Ser/Gly
1:101705591 rs149581242 G/A G = 0/A = 7,010 (0%) G = 1/A = 3,735 (0.027%) G = 1/A = 10,745 (0.0093%) 1,051 351 Cly/Ser

The allele numbers in the European American (EA allele) and African American (AA allele) population are shown, as well as the total allele number as of June 2012.