Table A1.
Gene | Chr | Chr Position (bp)a | SNP rsID | Location | Phase 1 |
Phases 1 and 2 |
||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P HWEb |
MAFc |
P HWEb |
MAFc |
|||||||||||||
Mayo | Duke | All | Mayo | Duke | All | Mayo | Duke | All | Mayo | Duke | All | |||||
ATIC | 2 | 215898090 | rs3772078 | Intron | 0.88 | 0.88 | 0.74 | 0.19 | 0.19 | 0.19 | 1.00 | 0.80 | 0.85 | 0.20 | 0.18 | 0.19 |
2 | 215898265 | rs2372536d | Exone | 0.23 | 0.54 | 0.71 | 0.32 | 0.34 | 0.33 | 0.32 | 0.40 | 0.18 | 0.32 | 0.33 | 0.32 | |
2 | 215903416 | rs1880586d | Intron | 0.77 | 0.36 | 0.35 | 0.48 | 0.48 | 0.48 | 0.94 | 0.46 | 0.51 | 0.49 | 0.48 | 0.48 | |
2 | 215903526 | rs1983462d | Intron | 0.58 | 0.30 | 0.23 | 0.32 | 0.32 | 0.32 | 0.77 | 0.61 | 0.90 | 0.32 | 0.33 | 0.33 | |
2 | 215913412 | rs16853826d | Intron | 1.00 | 0.69 | 0.77 | 0.13 | 0.13 | 0.13 | 1.00 | 0.30 | 0.38 | 0.13 | 0.12 | 0.13 | |
2 | 215915470 | rs7586969d | Intron | 0.42 | 0.38 | 0.94 | 0.39 | 0.37 | 0.38 | 0.47 | 0.53 | 1.00 | 0.39 | 0.39 | 0.39 | |
2 | 215918481 | rs16853834 | Intron | 0.36 | 0.49 | 1.00 | 0.15 | 0.15 | 0.15 | 0.61 | 0.89 | 0.60 | 0.15 | 0.16 | 0.16 | |
2 | 215918544 | rs1404772 | Intron | 1.00 | 0.65 | 0.78 | 0.07 | 0.06 | 0.06 | 1.00 | 0.73 | 1.00 | 0.07 | 0.06 | 0.06 | |
2 | 215925884 | rs7604984 | 3′ Flanking | 0.84 | 0.70 | 0.94 | 0.40 | 0.40 | 0.40 | 0.53 | 0.24 | 0.19 | 0.39 | 0.39 | 0.39 | |
SHMT2 | 12 | 55909088 | rs7301155d | 5′ Flanking | 0.67 | – | 0.67 | 0.34 | – | 0.34 | 0.70 | 0.39 | 0.39 | 0.34 | 0.30 | 0.32 |
12 | 55912849 | rs2229716d | Exonf | 1.00 | 1.00 | 1.00 | 0.04 | 0.04 | 0.04 | 1.00 | 0.22 | 0.67 | 0.04 | 0.04 | 0.04 | |
SLC46A1 | 17 | 23743752 | rs9894260d | Intron | 0.34 | 0.56 | 0.19 | 0.08 | 0.09 | 0.08 | 1.00 | 0.36 | 0.36 | 0.08 | 0.09 | 0.08 |
17 | 23747949 | rs739439 | 3′ UTR | 0.72 | 0.16 | 0.44 | 0.17 | 0.20 | 0.18 | 0.66 | 0.38 | 0.71 | 0.18 | 0.19 | 0.18 | |
17 | 23749392 | rs2239908 | 3′ UTR | 0.24 | 0.65 | 0.23 | 0.44 | 0.46 | 0.45 | 0.67 | 0.50 | 0.40 | 0.45 | 0.45 | 0.45 | |
17 | 23753580 | rs17719944 | Intron | 0.55 | 1.00 | 0.70 | 0.09 | 0.10 | 0.10 | 0.80 | 0.51 | 0.51 | 0.09 | 0.09 | 0.09 |
aBase pairs on genome build 36; UTR, untranslated region.
bP values from the chi-square test assessing deviation of genotype frequencies among controls from those expected under Hardy–Weinberg Equilibrium.
cMinor allele frequency.
dImputed SNPs in Phase 2 samples.
eNon-synonymous polymorphism.
fSynonymous polymorphism.