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

Table 4.

Effect of Different Haplotype Combinations of the Low-Frequency (rs117913124) and Common (rs10741657) CYP2R1 Variants on 25OHD Levels

Haplotypea Betab p Value n
GA GA −0.02 0.79 156
AG GA −0.49 0.02 23
AG GG −0.3 0.13 27
GA GG 0.01 0.87 477
GG GG 0.05 0.58 330

Results are based on individuals from the TUK WGS cohort.

a

The first allele in each chromatid corresponds to the low-frequency variant rs117913124; the second allele corresponds to the common variant rs10741657. The two AG blocks contain the 25OHD decreasing allele (A) of the low-frequency variant, which is always inherited with the 25OHD decreasing allele (G) of the common variant.

b

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