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

Table 3.

Summary Statistics for the CYP2R1 Low-Frequency Variant, rs117913124, from 19 Studies

Study 25OHD Measurement Method n EAF (A Allelea) Betab Standard Error p Value Information Score
ALSPAC imputed MS 3,675 0.028 −0.59 0.07 3.43 × 10−18 0.99
ALSPAC WGS MS 1,606 0.028 −0.65 0.11 8.23 × 10−10 NA
BPROOF MS 2,512 0.027 −0.4 0.09 4.99 × 10−6 0.97
BMDCS MS 863 0.019 −0.11 0.06 0.058 0.98
CHS MS 1,581 0.022 −0.55 0.11 5.15 × 10−7 0.88
FHS CLIA 5,402 0.021 −0.45 0.07 2.32 × 10−10 0.97
GenerationR MS 1,442 0.033 −0.66 0.1 1.78 × 10−6 1
GOOD CLIA 921 0.028 −0.14 0.14 0.31 0.96
MrOS MS 3,265 0.018 −0.76 0.09 5.63 × 10−16 0.96
MrOS Malmo CLIA 893 0.033 −0.33 0.14 0.016 0.94
MrOS GBG CLIA 945 0.026 −0.61 0.14 7.87 × 10−6 1
NEO MS 5,727 0.025 −0.54 0.06 2.73 × 10−19 1
PIVUS CLIA 943 0.028 −0.66 0.14 2.56 × 10−6 0.99
RSI ECLIA 3,320 0.025 −0.19 0.08 0.019 0.98
RSII ECLIA 2,022 0.033 −0.37 0.09 2.38 × 10−5 0.99
RSIII ECLIA 2,913 0.027 −0.51 0.08 4.61 × 10−10 0.98
TUK imputed CLIA 1,919 0.021 −0.1 0.11 0.35 0.98
TUK WGS CLIA 1,013 0.025 −0.39 0.14 0.006 NA
ULSAM MS 1,095 0.025 −0.33 0.14 0.02 1

Abbreviations are as follows: CLIA, chemiluminescence immunoassay; EAF, effect allele frequency; ECLIA, electrochemiluminescence immunoassay; MS, mass spectrometry; NA, not applicable; 25OHD, 25-hydroxyvitamin D.

a

Effect allele is the 25OHD decreasing allele.

b

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