Table 1.
Minor allele frequency |
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Chr. position | Gene position | dbSNP ID | Variation | Amino acid change | Location | Position | Coriell n = 64 | No AWS n = 60 | AWS n = 60 | |
1 | 13242041 | −1727 | G > C | Upstream-1727 | Upstream-1727 | 0.0000 | 0.0085 | 0.0000 | ||
2 | 13241615 | −1301 | C > G | Upstream-1301 | Upstream-1301 | 0.0078 | 0.0000 | 0.0000 | ||
3 | 13240778 | −464 | G > A | Upstream-464 | Upstream-464 | 0.0000 | 0.0085 | 0.0000 | ||
4 | 13240750 | −436 | insT | Upstream-436 | Upstream-436 | 0.2344 | 0.2458 | 0.1967 | ||
5 | 13240302 | 13 | A > G | Ile5Val | Exon 1 | c13 | 0.0000 | 0.0085 | 0.0082 | |
6 | 13240274 | 41 | C > T | Intron 1 | IVS1 + 25 | 0.0078 | 0.0085 | 0.0164 | ||
7 | 13237636 | 2679 | C > G | Gln61Glu | Exon 2 | c181 | 0.0000 | 0.0085 | 0.0000 | |
8 | 13237519 | 2796 | A > G | Intron 2 | IVS2 + 115 | 0.0000 | 0.0085 | 0.0082 | ||
9 | 13214491 | 25824 | rs17273542 | C > T | Ser92Leu | Exon 3 | c275 | 0.0078 | 0.0169 | 0.0000 |
10 | 13214441 | 25874 | G > T | Gly109Cys | Exon 3 | c325 | 0.0000 | 0.0000 | 0.0082 | |
11 | 13214410 | 25905 | G > C | Cys119Ser | Exon 3 | c356 | 0.0000 | 0.0000 | 0.0082 | |
12 | 13214354 | 25961 | A > C | Intron 3 | IVS3 + 31 | 0.0156 | 0.0000 | 0.0000 | ||
13 | 13213592 | 26723 | C > G | Gln171Glu | Exon 4 | c511 | 0.0000 | 0.0000 | 0.0082 | |
14 | 13213515 | 26800 | G > A | Intron 4 | IVS4 + 55 | 0.0000 | 0.0000 | 0.0082 | ||
15 | 13212200 | 28115 | A > C | Intron 5 | IVS5 + 32 | 0.0156 | 0.0085 | 0.0082 | ||
16 | 13211401 | 28914 | A > G | Lys282Lys | Exon 6 | c846 | 0.0078 | 0.0000 | 0.0000 | |
17 | 13209839 | 30476 | C > T | Intron 6 | IVS6 + 1532 | 0.0078 | 0.0000 | 0.0000 | ||
18 | 13209797 | 30517–30518 | delTA | Intron 6 | IVS6 + 1573–74 | 0.0156 | 0.0000 | 0.0000 | ||
19 | 13209603 | 30712 | rs34911705 | G > C | Leu347Phe | Exon 7 | c1041 | 0.0078 | 0.0000 | 0.0000 |
20 | 13209570 | 30745 | rs13297480 | A > G | Thr358Thr | Exon 7 | c1074 | 0.0938 | 0.2034 | 0.0902 |
21 | 13209459 | 30856 | A > G | Intron 7 | IVS7 + 99 | 0.0000 | 0.0085 | 0.0000 | ||
22 | 13195789 | 44526 | A > T | Intron 10 | IVS10 + 126 | 0.0313 | 0.0000 | 0.0164 | ||
23 | 13195264 | 45051 | rs2039333 | T > C | Intron 10 | IVS10 + 651 | 0.0313 | 0.0000 | 0.0164 | |
24 | 13195020 | 45295 | C > T | Intron 11 | IVS11 + 15 | 0.0000 | 0.0085 | 0.0000 | ||
25 | 13186032 | 54283 | T > C | Intron 12 | IVS12 + 88 | 0.0078 | 0.0000 | 0.0082 | ||
26 | 13182360 | 57955 | insA | Intron 13 | IVS13 + 806 | 0.0156 | 0.0169 | 0.0164 | ||
27 | 13182320 | 57995 | rs1331676 | G > C | Intron 13 | IVS13 + 846 | 0.0000 | 0.0000 | 0.0082 | |
28 | 13182201 | 58114 | C > T | Arg633STOP | Exon 14 | c1897 | 0.0000 | 0.0085 | 0.0000 | |
29 | 13182048 | 58267 | rs13291548 | A > G | Intron 14 | IVS14 + 82 | 0.0391 | 0.0169 | 0.0000 | |
30 | 13182024 | 58291 | rs16930194 | C > T | Intron 14 | IVS14 + 106 | 0.0234 | 0.0339 | 0.0164 | |
31 | 13180292 | 60023 | G > A | Val659Ile | Exon 15 | c1975 | 0.0078 | 0.0085 | 0.0082 | |
32 | 13180272 | 60043 | C > T | Ile665Ile | Exon 15 | c1995 | 0.0078 | 0.0000 | 0.0000 | |
33 | 13180235 | 60080 | A > T | Thr678Ser | Exon 15 | c2032 | 0.0078 | 0.0000 | 0.0082 | |
34 | 13180163 | 60152 | rs4741289 | G > A | Glu702Lys | Exon 15 | c2104 | 0.0078 | 0.0000 | 0.0164 |
35 | 13180162 | 60153 | rs4740548 | A > T | Glu702Val | Exon 15 | c2105 | 0.0078 | 0.0000 | 0.0164 |
36 | 13179093 | 61222 | C > T | Intron 15 | IVS15 + 1020 | 0.0000 | 0.0000 | 0.0082 | ||
37 | 13179017 | 61298 | rs41265290 | A > G | Intron 15 | IVS15 + 1096 | 0.0313 | 0.0000 | 0.0082 | |
38 | 13178754 | 61561 | T > G | Intron 16 | IVS16 + 29 | 0.0078 | 0.0000 | 0.0000 | ||
39 | 13178719 | 61596 | T > C | Intron 16 | IVS16 + 64 | 0.0000 | 0.0085 | 0.0000 | ||
40 | 13176355 | 63960 | A > G | Lys799Glu | Exon 17 | c2395 | 0.0078 | 0.0000 | 0.0082 | |
41 | 13173701 | 66614 | A > G | Intron 17 | IVS17 + 2568 | 0.0000 | 0.0085 | 0.0000 | ||
42 | 13173486 | 66829 | rs34704118 | A > G | Leu860Leu | Exon 18 | c2580 | 0.0156 | 0.0000 | 0.0082 |
43 | 13166312 | 74003 | rs2274856 | G > A | Ser918Ser | Exon 19 | c2754 | 0.2734 | 0.3051 | 0.2049 |
44 | 13165987 | 74328 | rs1331674 | G > A | Intron 19 | IVS19 + 148 | 0.2734 | 0.2966 | 0.2131 | |
45 | 13165908 | 74407 | C > T | Intron 19 | IVS19 + 227 | 0.0391 | 0.0339 | 0.0164 | ||
46 | 13165719 | 74594–74596 | rs3831219 | delCTC | Intron 20 | IVS20 + 30–32 | 0.3359 | 0.3390 | 0.2541 | |
47 | 13165639 | 74676 | G > T | Intron 20 | IVS20 + 112 | 0.0000 | 0.0085 | 0.0000 | ||
48 | 13158588 | 81727 | T > C | Intron 20 | IVS20 + 7163 | 0.0000 | 0.0000 | 0.0082 | ||
49 | 13158251 | 82064 | insT | Intron 21 | IVS21 + 114 | 0.0000 | 0.0085 | 0.0000 | ||
50 | 13153010 | 87305 | rs1331672 | C > G | Intron 21 | IVS21 + 5355 | 0.3359 | 0.3220 | 0.2295 | |
51 | 13148261 | 92054 | delC | Intron 22 | IVS22 + 4429 | 0.0156 | 0.0085 | 0.0164 | ||
52 | 13148062 | 92253 | rs41265286 | G > A | Ser1136Asn | Exon 23 | c3407 | 0.0078 | 0.0085 | 0.0000 |
53 | 13140714 | 99601 | G > A | Intron 23 | IVS23 + 7303 | 0.0313 | 0.0000 | 0.0082 | ||
54 | 13140558 | 99757 | T > G | Ser1194Arg | Exon 24 | c3582 | 0.0078 | 0.0085 | 0.0000 | |
55 | 13140531 | 99784 | rs10756457 | A > G | Lys1203Lys | Exon 24 | c3609 | 0.3359 | 0.3475 | 0.2377 |
56 | 13140506 | 99809 | C > T | Intron 24 | IVS24 + 4 | 0.0000 | 0.0000 | 0.0082 | ||
57 | 13137723 | 102592 | rs7024892 | A > G | Intron 24 | IVS24 + 2787 | 0.3281 | 0.3644 | 0.2377 | |
58 | 13137602 | 102713 | G > A | Arg1229Gln | Exon 25 | c3686 | 0.0000 | 0.0085 | 0.0000 | |
59 | 13137569 | 102746 | A > T | Gln1240Leu | Exon 25 | c3719 | 0.0000 | 0.0000 | 0.0082 | |
60 | 13133591 | 106724 | G > A | Intron 25 | IVS25 + 3956 | 0.0000 | 0.0000 | 0.0082 | ||
61 | 13133470 | 106845 | G > T | Asp1279Tyr | Exon 26 | c3835 | 0.0000 | 0.0085 | 0.0000 | |
62 | 13133254 | 107061 | T > C | Intron 26 | IVS26 + 211 | 0.0078 | 0.0000 | 0.0000 | ||
63 | 13130070 | 110245 | G > A | Glu1307Lys | Exon 27 | c3919 | 0.0000 | 0.0085 | 0.0000 | |
64 | 13127982 | 112333 | delT | Leu1392a | Exon 28 | c4174 | 0.0078 | 0.0000 | 0.0000 | |
65 | 13127889 | 112426 | A > G | Intron 28 | IVS28 + 67 | 0.0000 | 0.0085 | 0.0082 | ||
66 | 13126160 | 114155 | G > C | Gln1438His | Exon 30 | c4314 | 0.0000 | 0.0000 | 0.0082 | |
67 | 13123801 | 116514 | A > G | Intron 31 | IVS31 + 22 | 0.0000 | 0.0000 | 0.0082 | ||
68 | 13116836 | 123479 | G > T | Intron 31 | IVS31 + 6987 | 0.0078 | 0.0085 | 0.0000 | ||
69 | 13115415 | 124900 | T > C | Intron 33 | IVS33 + 1100 | 0.0078 | 0.0000 | 0.0000 | ||
70 | 13115201 | 125114 | rs2297003 | A > G | Intron 34 | IVS34 + 14 | 0.3359 | 0.3390 | 0.2459 | |
71 | 13113330 | 126985 | T > C | Intron 34 | IVS34 + 1885 | 0.0000 | 0.0000 | 0.0082 | ||
72 | 13109766 | 130549 | A > G | Intron 37 | IVS37 + 1972 | 0.0000 | 0.0085 | 0.0082 | ||
73 | 13105422 | 134893 | rs2274647 | A > C | Intron 38 | IVS38 + 4079 | 0.3125 | 0.3644 | 0.2705 | |
74 | 13105350 | 134965 | insC | Intron 38 | IVS38 + 4151 | 0.0078 | 0.0085 | 0.0082 | ||
75 | 13105349 | 134966 | rs41265282 | C > G | Intron 38 | IVS38 + 4152 | 0.0313 | 0.0000 | 0.0082 | |
76 | 13103159 | 137156 | delA | Intron 40 | IVS40 + 771 | 0.0313 | 0.0000 | 0.0082 | ||
77 | 13103006 | 137309 | A > G | Intron 41 | IVS41 + 4 | 0.0000 | 0.0085 | 0.0000 | ||
78 | 13102228 | 138087 | C > G | Intron 41 | IVS41 + 782 | 0.0078 | 0.0000 | 0.0000 | ||
79 | 13102024 | 138291 | rs34605667 | G > A | Arg1880Lys | Exon 42 | c5639 | 0.0547 | 0.0339 | 0.0492 |
80 | 13102015 | 138300 | G > A | Intron 42 | IVS42 + 8 | 0.0000 | 0.0000 | 0.0082 | ||
81 | 13100138 | 140177 | T > A | Intron 43 | IVS43 + 497 | 0.0078 | 0.0000 | 0.0000 | ||
82 | 13100068 | 140247 | C > T | Intron 43 | IVS43 + 567 | 0.0078 | 0.0000 | 0.0000 | ||
83 | 13099969 | 140346 | T > C | Ile1947Thr | Exon 44 | c5840 | 0.0000 | 0.0085 | 0.0000 | |
84 | 13099015 | 141300 | G > T | Gly1968Cys | Exon 45 | c5902 | 0.0000 | 0.0000 | 0.0082 | |
85 | 13098915 | 141400 | C > A | Intron 45 | IVS45 + 20 | 0.0000 | 0.0000 | 0.0082 | ||
86 | 13098824 | 141491 | G > A | Intron 45 | IVS45 + 111 | 0.0078 | 0.0000 | 0.0000 | ||
87 | 13098794 | 141521 | rs3765550 | A > G | Intron 45 | IVS45 + 141 | 0.4063 | 0.3729 | 0.4426 | |
88 | 13097222 | 143093 | C > T | Intron 45 | IVS45 + 1713 | 0.0000 | 0.0000 | 0.0082 | ||
89 | 13097121 | 143194 | A > G | Intron 45 | IVS45 + 1814 | 0.0078 | 0.0085 | 0.0000 | ||
90 | 13096598 | 143717 | rs3264 | A > G | Exon 46 | 3′-UTR + 366 | 0.3359 | 0.4237 | 0.3689 | |
91 | 13096469 | 143846 | A > G | Intron 46 | Intergenic + 109 | 0.0000 | 0.0000 | 0.0082 | ||
92 | 13096335 | 143980 | rs722651 | C > T | Intron 46 | Intergenic + 243 | 0.3828 | 0.2627 | 0.3607 |
AWS, alcohol withdrawal seizure.
Variations included in the haplotype analysis are highlighted. AWS group included alcohol-dependent subjects with a history of withdrawal seizures. No AWS group included alcohol-dependent subjects without history of withdrawal seizures.
A frameshift.