Skip to main content
. Author manuscript; available in PMC: 2012 Jun 1.
Published in final edited form as: Gastroenterology. 2011 Mar 9;140(7):1934–1942. doi: 10.1053/j.gastro.2011.02.063

Table II. Candidate SNPs with p-values for Hardy-Weinberg Equilibrium and Minor Allele Frequencies.

(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; the two p-values not satisfying HWE are marked with *.

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
Observed
MAF
HWE
p-value
Observed
MAF
HWE
p-value
SHP rs6659176 C G 0.092 0.061 0.266 0.055 1.000 missense 171 Ala ⇒ Gly
ASBT rs188096 G T 0.192 0.111 0.759 0.164 1.000 missense 171 Ala ⇒ Ser
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 1020 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 * 0.273 0.047 * missense 136 Leu ⇒ Pro
FGFR4 rs351855 G A 0.283 0.333 0.079 0.318 0.210 missense 388 Gly ⇒ Arg
OSTα rs939885 G A 0.458 0.470 1.000 0.518 0.279 missense 202 Val ⇒ Ile
OSTβ rs2946676 A G 0.14 0.142 0.087 0.100 1.000 near-gene-3
(dbSNP)
OSTβ rs4238399 C T 0.37 0.407 0.324 0.445 1.000 near-gene-3
(dbSNP)
CYP7A1 rs8192879 C T 0.37 0.407 0.535 0.336 0.362 utr-3(dbSNP)
CYP7A1 rs8192877 A G 0.18 0.147 0.473 0.173 0.648 intron(dbSNP)
CYP7A1 rs11786580 C T 0.24 0.197 0.347 0.227 0.711 intron(dbSNP)
CYP7A1 rs7833904 T A 0.41 0.394 0.079 0.373 0.563 intergenic(GVS)
CYP7A1 rs10957057 C T 0.14 0.127 0.277 0.100 1.000 intergenic(GVS)