Table 3 Functional and common non-synonymous form of single nucleotide polymorphisms (nsSNPs) with frequency information available from different human populations.
Genea | SNP IDb | Amino acid change c | African | Asian | Caucasian | Hispanic |
|---|---|---|---|---|---|---|
ADD1 | rs4961 | G460W | 46 chr. G = 0.891 T = 0.109 | 48 chr. G = 0.521 T = 0.479 | 48 chr. G = 0.833 T = 0.167 | n/a |
ADM | rs5005 | S50R | 46 chr. C = 0.957 G = 0.043 | 48 chr. C = 1.000 | 48 chr. C = 1.000 | n/a |
ADRB2 | rs1042713 | G16R | 46 chr. G = 0.609 A = 0.391 | 48 chr. A = 0.583 G = 0.417 | 46 chr. G = 0.674 A = 0.326 | n/a |
ALDH2 | rs671 | E504K | 48 chr. G = 1.000 | 48 0 G = 0.771 A = 0.229 | 58 chr. G = 1.000 | 44 chr. G = 1.000 |
CDH12 | rs4371716 | V68M | 46 chr. T = 0.674 C = 0.326 | 48 chr. C = 0.812 T = 0.188 | 48 chr. C = 0.729 T = 0.271 | n/a |
CHGA | rs729940 | R399W | 114 chr. C = 0.954 T = 0.046 | 88 chr. C = 0.715 T = 0.285 | 104 chr. C = 0.893 T = 0.107 | 56 chr. C = 0.769 T = 0.231 |
CHGA | rs9658667 | G382S | 114 chr. G = 1.000 | 88 chr. G = 0.982 A = 0.018 | 104 chr. G = 0.951 A = 0.049 | 56 chr. G = 0.941 A = 0.059 |
CSF3R | rs3917973 | M231T | 48 chr. T = 0.938 C = 0.062 | 48 chr. T = 1.000 | 58 chr. T = 0.983 C = 0.017 | 46 chr. T = 1.000 |
CSF3R | rs3917991 | D510H | 48 chr. G = 0.750 C = 0.250 | 48 chr. G = 1.000 | 58 chr. G = 1.000 | 46 chr. G = 0.935 C = 0.065 |
CYBA | rs4673 | Y72H | 48 chr. C = 0.542 T = 0.458 | 1480 chr. G = 0.907 A = 0.093 | 60 chr. C = 0.683 T = 0.317 | 46 chr. C = 0.783 T = 0.217 |
CYP1B1 | rs1800440 | N453S | 48 chr. A = 1.000 | 48 chr. A = 0.958 G = 0.042 | 62 chr. A = 0.806 G = 0.194 | 46 chr. A = 0.761 G = 0.239 |
CYP2A6 | rs1801272 | L160H | 46 chr. T = 1.000 | 46 chr. T = 1.000 | 60 chr. T = 0.900 A = 0.100 | 46 chr. T = 0.978 A = 0.022 |
CYP2C9 | rs1799853 | R144C | 48 chr. C = 1.000 | 48 chr. C = 0.979 T = 0.021 | 62 chr. C = 0.871 T = 0.129 | 46 chr. C = 0.935 T = 0.065 |
ENG | rs1800956 | D366H | 46 chr. C = 0.978 G = 0.022 | 1480 chr. C = 0.942 G = 0.058 | 46 chr. C = 1.000 | n/a |
EPHX1 | rs1051740 | Y113H | 48 chr. T = 0.917 C = 0.083 | 84 chr. T = 0.620 C = 0.380 | 62 chr. T = 0.613 C = 0.387 | 46 chr. T = 0.587 C = 0.413 |
ERBB2 | rs1058808 | P1170A | 40 chr. C = 0.775 G = 0.225 | 1502 chr. G = 0.514 C = 0.486 | 48 chr. G = 0.646 C = 0.354 | n/a |
FPR1 | rs867228 | E346A | 44 chr. G = 0.818 T = 0.182 | 46 chr. G = 0.761 T = 0.239 | 48 chr. G = 0.771 T = 0.229 | n/a |
FUCA2 | rs3762001 | H371Y | 44 chr. G = 0.818 A = 0.182 | 1282 chr. G = 0.789 A = 0.211 | 44 chr. G = 0.795 A = 0.205 | n/a |
LIG4 | rs1805388 | T9I | 48 chr. C = 0.979 T = 0.021 | 48 chr. G = 0.792 A = 0.208 | 62 chr. C = 0.871 T = 0.129 | 46 chr. C = 0.848 T = 0.152 |
MC1R | rs1805007 | R151C | 42 chr. C = 1.000 | 40 chr. C = 1.000 | 46 chr. C = 0.891 T = 0.109 | n/a |
MMP9 | rs2250889 | R574P | 46 chr. C = 0.870 G = 0.130 | 1488 chr. C = 0.688 G = 0.312 | 48 chr. C = 0.896 G = 0.104 | n/a |
MMP9 | rs3918252 | N127K | 48 chr. C = 0.938 G = 0.062 | 48 chr. C = 1.000 | 48 chr. C = 1.000 | n/a |
MNDA | rs2276403 | H357Y | 46 chr. C = 1.000 | 1484 chr. C = 0.944 T = 0.056 | 48 chr. C = 1.000 | n/a |
PGM3 | rs473267 | D466N | 46 chr. T = 0.565 C = 0.435 | 84 chr. C = 0.750 T = 0.250 | 48 chr. C = 0.688 T = 0.312 | n/a |
PLAU | rs2227564 | L141P | 48 chr. C = 0.979 T = 0.021 | 1492 chr. G = 0.783 A = 0.217 | 44 chr. C = 0.659 T = 0.341 | n/a |
PTPN3 | rs3793524 | A90P | 46 chr. G = 0.522 C = 0.478 | 1498 chr. G = 0.628 C = 0.372 | 46 chr. C = 0.717 G = 0.283 | n/a |
SLC1A5 | rs3027956 | P17A | 46 chr. G = 0.957 C = 0.043 | 42 chr. G = 0.524 C = 0.476 | 146 chr. C = 0.710 G = 0.290 | n/a |
TYR | rs1042602 | S192Y | 46 chr. C = 0.957 A = 0.043 | 48 chr. C = 1.000 | 48 chr. C = 0.750 A = 0.250 | n/a |
VCAM1 | rs3783613 | G413A | 48 chr. G = 0.938 C = 0.062 | 44 chr. G = 0.977 C = 0.023 | 48 chr. G = 1.000 | n/a |
XRCC1 | rs25489 | R280H | 48 chr. G = 0.937 A = 0.063 | 84 chr. C = 1.000 | 62 chr. G = 0.968 A = 0.032 | 46 chr. G = 0.957 A = 0.043 |