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. 2017 Jul 27;101(2):227–238. doi: 10.1016/j.ajhg.2017.06.014

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.

a

Effect allele is the 25OHD decreasing allele.

b

Effect allele frequency.

c

Beta values represent changes in standard deviations of the standardized log-transformed 25OHD levels.

d

Nearest gene: PDE3B.