Table 3.
Genotyped and imputed markers (other than those on 5p14.1) with suggestive association signals (P<1×10−5) in the two discovery cohorts
Chr | SNP | Position | Locus | Gene | Type | MACH Rsq* |
Minor / major allele |
MAF (AGRE) |
Z score† (AGRE) |
Case MAF (ACC) |
Control MAF (ACC) |
Odds ratio† (ACC) |
P value (combined) |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
3 | rs3755827 | 62335411 | 3p14.2 | Near FEZF2 | Genotyped | C/T | 0.13 | 3.37 | 0.14 | 0.11 | 1.27 | 3.5×10−6 | |
6 | rs9395885 | 53853436 | 6p12.1 | LRRC1 | Imputed | 0.99 | T/C | 0.08 | 2.27 | 0.10 | 0.07 | 1.43 | 5.8×10−6 |
6 | rs9349688 | 53870051 | 6p12.1 | LRRC1 | Genotyped | G/A | 0.09 | 2.10 | 0.10 | 0.07 | 1.43 | 8.1×10−6 | |
6 | rs9384952 | 116066757 | 6q22.1 | Between HS3ST5 and FRK |
Genotyped | C/T | 0.41 | 2.33 | 0.42 | 0.37 | 1.20 | 9.4×10−6 | |
10 | rs9651325 | 68649859 | 10q21.3 | CTNNA3 | Imputed | 0.97 | A/G | 0.11 | −3.24 | 0.09 | 0.12 | 0.80 | 9.2×10−6 |
10 | rs807023 | 102760072 | 10q24.31 | Near LZTS2 | Genotyped | A/C | 0.14 | 1.12 | 0.15 | 0.10 | 1.48 | 7.8×10−6 | |
12 | rs10774538 | 118888180 | 12q24.23 | Near CCDC64 | Genotyped | T/C | 0.13 | −2.51 | 0.12 | 0.15 | 0.77 | 6.2×10−6 | |
13 | rs9521337 | 108823637 | 13q33.3 | Near MYO16 | Imputed | 0.98 | T/G | 0.13 | 2.41 | 0.14 | 0.11 | 1.34 | 6.8×10−6 |
13 | rs4771632 | 108846743 | 13q33.3 | Near MYO16 | Imputed | 0.99 | A/G | 0.13 | 2.32 | 0.14 | 0.11 | 1.32 | 9.5×10−6 |
13 | rs7996916 | 108855628 | 13q33.3 | Near MYO16 | Imputed | 0.99 | A/C | 0.12 | 3.07 | 0.15 | 0.12 | 1.27 | 5.5×10−6 |
13 | rs1328250 | 108856632 | 13q33.3 | Near MYO16 | Imputed | 1.00 | T/C | 0.12 | 3.07 | 0.14 | 0.12 | 1.27 | 5.9×10−6 |
13 | rs4771633 | 108858788 | 13q33.3 | Near MYO16 | Imputed | 1.00 | G/A | 0.12 | 2.98 | 0.14 | 0.12 | 1.26 | 9.2×10−6 |
13 | rs9521354 | 108865125 | 13q33.3 | Near MYO16 | Genotyped | C/A | 0.13 | 3.38 | 0.14 | 0.12 | 1.25 | 5.8×10−6 | |
13 | rs9521355 | 108865183 | 13q33.3 | Near MYO16 | Genotyped | T/C | 0.13 | 3.20 | 0.14 | 0.12 | 1.25 | 7.1×10−6 | |
13 | rs1328244 | 108881899 | 13q33.3 | Near MYO16 | Genotyped | C/T | 0.08 | 3.92 | 0.10 | 0.08 | 1.31 | 8.2×10−7 | |
14 | rs12897470 | 39895590 | 14q21.1 | Between FBXO33 and LRFN5 |
Imputed | 0.99 | A/G | 0.50 | 3.39 | 0.51 | 0.47 | 1.17 | 2.6×10−6 |
14 | rs7147817 | 39901754 | 14q21.1 | Between FBXO33 and LRFN5 |
Genotyped | G/A | 0.54 | 3.38 | 0.54 | 0.50 | 1.20 | 2.7×10−7 | |
14 | rs17783432 | 76141161 | 14q24.3 | Between ESRRB and VASH1 |
Genotyped | T/G | 0.15 | 1.97 | 0.15 | 0.11 | 1.36 | 9.4×10−6 | |
16 | rs7206043 | 8412954 | 16p13.2 | Between A2BP1 and C16orf68 |
Imputed | 0.98 | G/A | 0.41 | −3.03 | 0.39 | 0.43 | 0.84 | 4.8×10−6 |
16 | rs9932538 | 19116070 | 16p12.3 | SYT17 | Genotyped | G/A | 0.16 | 1.97 | 0.17 | 0.12 | 1.47 | 1.9×10−7 | |
20 | rs6131030 | 44241393 | 20q13.12 | CDH22 | Genotyped | A/G | 0.42 | 3.24 | 0.41 | 0.37 | 1.17 | 6.5×10−6 | |
X | rs11798405 | 4940801 | Xp22.32 | Between PRKX and NLGN4X |
Genotyped | G/A | 0.09 | 2.71 | 0.10 | 0.06 | 1.66 | 9.0×10−7 | |
X | rs5972577 | 32390211 | Xp21.1 | DMD | Genotyped | A/G | 0.33 | 3.90 | 0.35 | 0.30 | 1.26 | 2.7×10−7 | |
X | rs6646569 | 119125802 | Xq24 | Near RHOXF1 | Genotyped | T/C | 0.13 | 2.49 | 0.14 | 0.09 | 1.56 | 9.7×10−7 |
MACH Rsq estimates the squared correlation between imputed and true genotypes, and a value less than 0.3 flags poorly imputed SNPs.
The Z score and odds ratio are calculated with respect to the major allele.