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. 2006 Sep;174(1):455–464. doi: 10.1534/genetics.106.058966

TABLE 1.

SNP positions and relative allele frequencies for each SNP

SNP Gene Position Alleles (rare in parentheses) Frequency of rare allele
1 CSN1S1 Promoter A (G) 0.018
2 CSN1S1 Promoter C (T) 0.078
3 CSN1S1 Promoter C (T) 0.199
4 CSN1S1 Promoter (A) G 0.172
5 CSN1S1 Promoter (A) G 0.159
6 CSN1S1 Promoter (A) G 0.2
7 CSN1S1 Promoter C (T) 0.195
8 CSN1S1 Promoter (A) G 0.203
9 CSN1S1 Exon 4 (C) T 0.166
10 CSN1S1 Exon 4 C (G) 0.083
11 CSN1S1 Exon 9 C (D) 0.082
12 CSN1S1 Intron 9 A (G) 0.198
13 CSN1S1 Exon 10 C (G) 0.199
14 CSN1S1 Exon 12 1, 3, 6 a
15 CSN1S1 Exon 17 C (T) 0.111
16 CSN2 Exon 7 (C) T 0.090
17 CSN2 Promoter A (G) 0.082
18 CSN2 Promoter (A) G 0.010
19 CSN2 Promoter A (G) 0.105
20 CSN2 Promoter (A) T 0.101
21 CSN2 Promoter C (T) 0.101
22 CSN1S2 Exon 3 (A) G 0.017
23 CSN1S2 Exon 15 C (T) 0.167
24 CSN1S2 Intron 15 C (G) 0.001
25 CSN1S2 Intron 15 C (T) 0.258
26 CSN1S2 Exon 16 A (T) 0.271
27 CSN3 Promoter A (G) 0.500
28 CSN3 Promoter (A) G 0.480
29 CSN3 Promoter (A) G 0.017
30 CSN3 Promoter (A) T 0.467
31 CSN3 Promoter (A) T 0.488
32 CSN3 Promoter C (G) 0.478
33 CSN3 Promoter (G) T 0.425
34 CSN3 Promoter G (T) 0.491
35 CSN3 Promoter A (G) 0.070
36 CSN3 Promoter (C) T 0.226
37 CSN3 Promoter G (T) 0.227
38 CSN3 Promoter A (G) 0.157
39 CSN3 Promoter (A) G 0.067
a

Relative frequencies are 0.745, 0.111, and 0.144 for alleles 1, 3, and 6, respectively.