Table 2.
Rank order | Variant | Control genotype, N (frequency) | Case genotype, N (frequency) | P-valuea (q-value) | Cytoband | Variant location | Distance (nucleotides)b | Gene | Gene description | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| |||||||||||||
AA | AB | BB | AA | AB | BB | ||||||||
1 | rs1714984 | 7 (0.07) | 19 (0.19) | 74 (0.74) | 7 (0.07) | 49 (0.49) | 44 (0.44) | 2.24 ×10−5 (0.2064) | 17p12 | Intronc | MYOCD | Myocardin | |
2 | rs965972 | 0 (0.00) | 1 (0.01) | 99 (0.99) | 2 (0.02) | 15 (0.15) | 83 (0.83) | 7.95 ×10−5 (0.3663) | 1q31.2 | ||||
3 | rs1867898 | 5 (0.05) | 44 (0.44) | 51 (0.51) | 9 (0.09) | 18 (0.18) | 73 (0.73) | 2.84 ×10−4 (0.6834) | 2q21.2 | ||||
4 | rs1986513 | 79 (0.79) | 18 (0.18) | 3 (0.03) | 96 (0.96) | 4 (0.04) | 0 (0.00) | 4.42 ×10−4 (0.6834) | 4q28.1 | ||||
5 | rs1408830 | 56 (0.57) | 37 (0.38) | 5 (0.05) | 33 (0.33) | 50 (0.50) | 17 (0.17) | 5.94 ×10−4 (0.6834) | 1q31.2 | Intron | HRPT2 | Hyperpara-thyroidism 2 | |
Upd | 43 432 | B3GALT | UDP-Gal: βGlcNAc β 1,3-galactosyl- transferase, polypeptide 2 | ||||||||||
6 | rs1381784 | 1 (0.01) | 37 (0.39) | 58 (0.60) | 11 (0.11) | 47 (0.48) | 40 (0.41) | 8.05 ×10−4 (0.6834) | 11p12 | ||||
7 | rs1459874 | 32 (0.32) | 63 (0.63) | 5 (0.05) | 37 (0.37) | 43 (0.43) | 20 (0.20) | 1.01 ×10−3 (0.6834) | 11p14.3 | ||||
8 | rs1358815 | 13 (0.13) | 55 (0.56) | 30 (0.31) | 14 (0.14) | 31 (0.31) | 54 (0.55) | 1.02 ×10−3 (0.6834) | 6p11.2 | Intron | PRIM2A | DNA primase large subunit | |
9 | rs954009 | 1 (0.01) | 44 (0.44) | 55 (0.55) | 10 (0.10) | 26 (0.26) | 63 (0.64) | 1.03 ×10−3 (0.6834) | 8p12 | Downe | 32 893 | FUT10 | Fucosyltransferase 10 (α (1,3) fucosyl-transferase) |
10 | rs2016056 | 53 (0.58) | 31 (0.34) | 7 (0.08) | 29 (0.32) | 44 (0.49) | 17 (0.19) | 1.07 ×10−3 (0.6834) | 13q21.2 | ||||
11 | rs720010 | 42 (0.42) | 41 (0.41) | 17 (0.17) | 20 (0.20) | 47 (0.47) | 33 (0.33) | 1.11 ×10−3 (0.6834) | 20p12.3 | Intron | BC038533 | IMAGE clone 5165367 | |
12 | rs1964875 | 8 (0.09) | 53 (0.58) | 30 (0.33) | 10 (0.11) | 30 (0.32) | 54 (0.57) | 1.12 ×10−3 (0.6834) | 6p11.2 | Intron | PRIM2A | Primase, polypeptide 2A, 58 kDa | |
13 | rs950064 | 7 (0.07) | 40 (0.40) | 53 (0.53) | 17 (0.17) | 54 (0.54) | 29 (0.29) | 1.16 ×10−3 (0.6834) | 13q21.2 | ||||
14 | rs720651 | 14 (0.14) | 55 (0.56) | 30 (0.30) | 36 (0.36) | 39 (0.39) | 24 (0.24) | 1.22 ×10−3 (0.6834) | 13q12.13 | Intron | ATP8A2 | ATPase, amino-phospholipid transporter-like, Class I, type 8A, member 2 | |
15 | rs2100690 | 34 (0.34) | 60 (0.60) | 6 (0.06) | 45 (0.45) | 37 (0.37) | 18 (0.18) | 1.28 ×10−3 (0.6834) | 3p22.1 | Intron | MYRIP | Myosin VIIA and Rab interacting protein | |
16 | rs727668 | 59 (0.67) | 20 (0.23) | 9 (0.10) | 67 (0.74) | 23 (0.26) | 0 (0.00) | 1.38 ×10−3 (0.6834) | 1p36.21 | ||||
17 | rs1903231 | 30 (0.30) | 63 (0.64) | 6 (0.06) | 36 (0.36) | 43 (0.43) | 21 (0.21) | 1.39 ×10−3 (0.6834) | 11p14.3 | ||||
18 | rs2213602f | 45 (0.98) | 1 (0.02) | 0 (0.00) | 24 (0.75) | 8 (0.25) | 0 (0.00) | 1.43 ×10−3 (0.6834) | Xp22.13 | ||||
19 | rs724585 | 1 (0.01) | 36 (0.38) | 57 (0.61) | 7 (0.07) | 18 (0.18) | 73 (0.74) | 1.45 ×10−3 (0.6834) | 10q32.32 | Down | 22 761 | PPP1R3C | Protein phosphatase 1, regulatory (inhibitor) subunit 3C |
Down | 90 924 | HECTD2 | HECT domain containing 2 | ||||||||||
20 | rs951299 | 22 (0.22) | 48 (0.48) | 30 (0.30) | 7 (0.07) | 44 (0.44) | 49 (0.49) | 1.55 ×10−3 (0.6834) | 4q23 | Up | 18 149 | TSPAN5 | Transmembrane 4 superfamily member 9 |
21 | rs2421057 | 6 (0.06) | 35 (0.35) | 59 (0.59) | 12 (0.12) | 54 (0.54) | 34 (0.34) | 1.56 ×10−3 (0.6834) | 5q33.3 | ||||
22 | rs31347 | 96 (0.96) | 4 (0.04) | 0 (0.00) | 81 (0.81) | 17 (0.17) | 2 (0.02) | 1.74 ×10−3 (0.6889) | 5q31.1 | Intron | FSTL4 | Follistatin-like 4 | |
23 | rs1587014 | 3 (0.03) | 15 (0.15) | 82 (0.82) | 0 (0.00) | 33 (0.33) | 67 (0.67) | 1.85 ×10−3 (0.6889) | 8p23.2 | ||||
24 | rs1343762 | 22 (0.25) | 41 (0.47) | 25 (0.28) | 33 (0.35) | 52 (0.56) | 8 (0.09) | 1.86 ×10−3 (0.6889) | 4q21.23 | Intron | BC005018 | IMAGE clone 3638910 | |
25 | rs950995 | 6 (0.06) | 36 (0.36) | 58 (0.58) | 0 (0.00) | 25 (0.25) | 75 (0.75) | 1.94 ×10−3 (0.6889) | 6q25.3 | Intron | TFB1M | Transcription factor B1, mitochondrial |
Abbreviation: SNP, single nucleotide polymorphism.
Data are from the NetAffx web site; verified and corrected using the USCS Genome Browser.
P-value (point-wise) is from likelihood ratio χ2 test, d.f. = 2.
SNP location is given when variant is found with 100 000 nucleotides of an annotated gene.
Variant is located in the intron of specified gene.
Distance the variant is located upstream of the transcription start site of the specified gene.
Distance the variant is located downstream of the polyadenylation site of the specified gene.
X chromosomal variant (one only from the female group).