. Author manuscript; available in PMC: 2013 Oct 28.

Published in final edited form as: Dig Dis Sci. 2012 Jan 21;57(5):10.1007/s10620-012-2035-5. doi: 10.1007/s10620-012-2035-5

Table 1.

Candidate SNPs with P values for Hardy–Weinberg equilibrium and minor allele frequencies (reproduced from [7])

Gene	SNP rs ID	Major allele	Minor allele	Predicted MAF	HV in full cohort N = 282		HV in transit cohort N = 56		Function	Amino acid position	Amino acid change
Gene	SNP rs ID	Major allele	Minor allele	Predicted MAF	Observed MAF	HWE P value	Observed MAF	HWE P value	Function	Amino acid position	Amino acid change
KLB	rs17618244	G	A	0.155	0.181	0.109	0.164	0.325	Missense	728	Arg = > Gln
KLB	rs4975017	C	A	0.325	0.355	0.513	0.409	0.100	Missense	1,020	Gln = > Lys
FGFR4	rs1966265	G	A	0.224	0.226	0.309	0.200	0.670	Missense	10	Val = > Ile
FGFR4	rs376618	T	C	0.225	0.204	0.001^a	0.273	0.047^a	Missense	136	Leu = > Pro
FGFR4	rs351855	G	A	0.283	0.333	0.079	0.318	0.210	Missense	388	Gly = > Arg

SNP single nucleotide polymorphism, HWE Hardy–Weinberg equilibrium, MAF minor allele frequency

Predicted MAF is based on the HapMap–CEU population. Observed MAF is derived from genotypes of the healthy volunteers (HV) in the full study cohort of 714 subjects (N = 282) and the HV subset (N = 56) of the 238 subjects with transit measurements. HWE P value > 0.05 denotes that the study sample is in HWE for the corresponding SNP

P values not satisfying HWE