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) |