82 Only one marker, SNP15 (already known as rs908832), a synonymous SNP located in exon 14, was significantly associated with Alzheimer after Bonferroni correction for 45 tests (odds ratio of 3.11 with a 95% C.I. = 1.63 - 5.91 Table 1 Annotation and allele frequencies of the 45 SNPs genotyped in ABCA2 gene SNP number NCBI dbSNP namea Position in base pairs on AL807752.10 Location Proteic variationb Common/rare alleles Allele frequency Cases (%) Controls (%) 1c rs4880189 98775 promotor - C/T 29.2 28.9 2 - 97324 intron1 - C/T 7.6 6.1 3 - 94298 intron1 - C/A 4.5 4.4 4 - 93234 intron2 - C/T 9.5 8.6 5 - 93105 intron2 - C/T 7.2 5.9 6d - 92389 exon5 R164H G/A 7.9 6.4 7e - 92343 exon5 A179A A/C 9.0 8.2 8 - 91329 intron7 - C/T 2.4 2.6 9 - 91272 intron7 - T/G 1.8 2.4 10f - 91052 intron7 - G/A 7.5 6.3 11 - 90545 intron8 - C/T 0.5 0.4 12d - 90329 exon9 A465V C/T 0.0 0.6 13 rs2176675 89729 intron9 - G/A 24.5 20.8 14 - 88103 intron13 - A/G 10.9 10.0 15e rs908832 87994 exon14 D679D C/T 8.0 3.1 16f - 87896 intron14 - G/T 1.2 1.0 17f rs6420279 87688 intron15 - T/C 39.5 38.0 18f - 87111 intron17 - C/T 2.9 4.2 19f rs6560657 86158 intron20 - G/A 2.0 2.6 20 rs10781532 84524 intron25 - A/G 3.3 2.7 21d - 83974 exon27 V1423F G/T 1.4 0.2 22 - 83790 intron27 - G/A 0.2 1.3 23 rs10781531 83775 intron27 - G/A 1.9 2.8 24 rs10870162 83649 intron27 - C/T 27.2 24.7 25 rs4880188 83352 intron28 - G/A 30.7 31.9 26 - 82991 exon29 V1614I G/A 0.9 0.2 27d - 82500 exon31 G1712S G/A 0.2 0.4 28 - 82401 intron31 - C/T 0.5 0.4 29 - 82196 intron32 - C/T 41.9 43.4 30 rs2271863 82023 intron33 - G/A 27.0 25.2 31e rs2271862 81869 exon34 H1824H T/C 27.0 27.2 32f - 81526 intron35 - C/T 0.4 0.6 33e - 81405 exon36 V1921V G/T 1.2 1.4 34 rs2292920 81329 intron36 - G/A 13.6 13.8 35e - 80651 exon39 A2035A C/T 6.1 8.0 36e - 80232 exon40 A2092A G/A 3.1 1.5 37f - 80126 intron40 - C/A 1.0 0.7 38e rs7048567 79547 exon43 L2230L C/T 29.4 27.0 39 rs4880187 78307 intron47 - C/G 3.6 4.0 40 rs4880186 78296 intron47 - G/C 2.5 3.7 41 rs10870161 77724 exon48 - C/T 2.4 4.0 42 - 77676 exon48 - C/T 26.4 23.9 43 - 77500 exon48 - C/T 0.9 1.6 44 rs4335222 77491 exon48 - G/T 1.1 1.4 45 rs7036668 77401 exon48 - C/T 1.9 3.2 a Name provided when SNP exists in NCBI dbSNP database.

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ABCA1 p.Ala465Val 15649702:82:850

status: NEW

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83 Only one marker, SNP15 (already known as rs908832), a synonymous SNP located in exon 14, was significantly associated with Alzheimer after Bonferroni correction for 45 tests (odds ratio of 3.11 with a 95% C.I. = 1.63 - 5.91 Table 1 Annotation and allele frequencies of the 45 SNPs genotyped in ABCA2 gene SNP number NCBI dbSNP namea Position in base pairs on AL807752.10 Location Proteic variationb Common/rare alleles Allele frequency Cases (%) Controls (%) 1c rs4880189 98775 promotor - C/T 29.2 28.9 2 - 97324 intron1 - C/T 7.6 6.1 3 - 94298 intron1 - C/A 4.5 4.4 4 - 93234 intron2 - C/T 9.5 8.6 5 - 93105 intron2 - C/T 7.2 5.9 6d - 92389 exon5 R164H G/A 7.9 6.4 7e - 92343 exon5 A179A A/C 9.0 8.2 8 - 91329 intron7 - C/T 2.4 2.6 9 - 91272 intron7 - T/G 1.8 2.4 10f - 91052 intron7 - G/A 7.5 6.3 11 - 90545 intron8 - C/T 0.5 0.4 12d - 90329 exon9 A465V C/T 0.0 0.6 13 rs2176675 89729 intron9 - G/A 24.5 20.8 14 - 88103 intron13 - A/G 10.9 10.0 15e rs908832 87994 exon14 D679D C/T 8.0 3.1 16f - 87896 intron14 - G/T 1.2 1.0 17f rs6420279 87688 intron15 - T/C 39.5 38.0 18f - 87111 intron17 - C/T 2.9 4.2 19f rs6560657 86158 intron20 - G/A 2.0 2.6 20 rs10781532 84524 intron25 - A/G 3.3 2.7 21d - 83974 exon27 V1423F G/T 1.4 0.2 22 - 83790 intron27 - G/A 0.2 1.3 23 rs10781531 83775 intron27 - G/A 1.9 2.8 24 rs10870162 83649 intron27 - C/T 27.2 24.7 25 rs4880188 83352 intron28 - G/A 30.7 31.9 26 - 82991 exon29 V1614I G/A 0.9 0.2 27d - 82500 exon31 G1712S G/A 0.2 0.4 28 - 82401 intron31 - C/T 0.5 0.4 29 - 82196 intron32 - C/T 41.9 43.4 30 rs2271863 82023 intron33 - G/A 27.0 25.2 31e rs2271862 81869 exon34 H1824H T/C 27.0 27.2 32f - 81526 intron35 - C/T 0.4 0.6 33e - 81405 exon36 V1921V G/T 1.2 1.4 34 rs2292920 81329 intron36 - G/A 13.6 13.8 35e - 80651 exon39 A2035A C/T 6.1 8.0 36e - 80232 exon40 A2092A G/A 3.1 1.5 37f - 80126 intron40 - C/A 1.0 0.7 38e rs7048567 79547 exon43 L2230L C/T 29.4 27.0 39 rs4880187 78307 intron47 - C/G 3.6 4.0 40 rs4880186 78296 intron47 - G/C 2.5 3.7 41 rs10870161 77724 exon48 - C/T 2.4 4.0 42 - 77676 exon48 - C/T 26.4 23.9 43 - 77500 exon48 - C/T 0.9 1.6 44 rs4335222 77491 exon48 - G/T 1.1 1.4 45 rs7036668 77401 exon48 - C/T 1.9 3.2 a Name provided when SNP exists in NCBI dbSNP database.

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ABCA1 p.Ala465Val 15649702:83:850

status: NEW

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