Table 2.
Association Results for Genome-wide-Significant Low-Frequency Variants from Discovery 25OHD Meta-analysis before and after Conditioning on the Lead Common CYP2R1 SNP, rs10741657, and the Lead Low-Frequency CYP2R1 Variant, rs117913124
SNV | Chr | Position | EAa | EAFb | Candidate Gene | Function | Betac | p Value |
Conditional on rs10741657 |
Conditional on rs117913124 |
n | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Betac | p Value | Betac | p Value | ||||||||||
rs117913124 | 11 | 14900931 | A | 0.025 | CYP2R1 | exon 4 (synonymous codon) | −0.43 | 1.5 × 10−88 | −0.39 | 2.4 × 10−78 | NA | NA | 41,336 |
rs116970203 | 11 | 14876718 | A | 0.025 | CYP2R1d | intron 11 variant | −0.43 | 2.2 × 10−90 | −0.40 | 3.3 × 10−80 | NA | NA | 41,138 |
rs117361591 | 11 | 14861957 | T | 0.014 | CYP2R1d | intron 11 variant | −0.44 | 9.1 × 10−51 | −0.40 | 2.2 × 10−44 | −0.05 | 0.017 | 38,286 |
rs117621176 | 11 | 14861320 | G | 0.014 | CYP2R1d | intron 11 variant | −0.44 | 8.7 × 10−51 | −0.40 | 2.1 × 10−44 | −0.05 | 0.016 | 38,273 |
rs142830933 | 11 | 14838760 | C | 0.014 | CYP2R1d | intron 5 variant | −0.44 | 1.4 × 10−48 | −0.40 | 1.7 × 10−42 | −0.05 | 0.03 | 37,541 |
rs117672174 | 11 | 14746404 | T | 0.014 | CYP2R1d | intron 1 variant | −0.43 | 2.8 × 10−45 | −0.39 | 2.9 × 10−39 | −0.04 | 0.062 | 37,209 |
Abbreviations are as follows: Chr, chromosome; EA, effect allele; EAF, effect allele frequency; NA, not applicable; SNV, single-nucleotide variant.
Effect allele is the 25OHD decreasing allele.
Effect allele frequency.
Beta values represent changes in standard deviations of the standardized log-transformed 25OHD levels.
Nearest gene: PDE3B.