MAFs of CES1 nsSNPs and haplotypes
| nsSNP or Haplotype | Protein Residue Changes | Nucleotide Changes | MAF | ||||||
|---|---|---|---|---|---|---|---|---|---|
| African | European (FINN) | European (Non-FINN) | East Asian | South Asian | Latino | Other | |||
| % | |||||||||
| nsSNP | |||||||||
| rs151291296 | L40Ter | T227G | 0.51 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| rs2307240 | S75N | G332A | 4.30 | 3.83 | 5.37 | 4.68 | 7.44 | 2.06 | 5.29 |
| rs121912777 | G142E | G533A | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| rs146456965 | G147C | G547T | 0.03 | 0.00 | 0.08 | 0.00 | 0.00 | 0.00 | 0.00 |
| rs202121317 | A158V | C581T | 0.04 | 0.00 | 0.00 | 0.03 | 6.69 | 0.04 | 0.11 |
| rs147694791 | T167S | C608G | 5.48 | 0.00 | 0.01 | 0.00 | 0.01 | 0.32 | 0.00 |
| rs143718310 | Q169P | A614C | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| rs148947808 | Y170D | T616G | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 |
| rs201065375 | R171C | C619T | 0.01 | 0.00 | 0.02 | 0.00 | 0.00 | 0.05 | 0.00 |
| rs4784575 | G173D | G626A | 0.01 | 0.00 | 0.00 | 0.39 | 0.02 | 0.12 | 0.00 |
| rs60054861 | R186P | G665C | 12.39 | 0.02 | 0.24 | 0.01 | 0.02 | 0.69 | 1.23 |
| rs2307243 | R199H | G704A | 0.74 | 0.00 | 0.03 | 0.00 | 0.00 | 0.03 | 0.00 |
| rs2307227 | D203E | C717A | 8.30 | 0.71 | 3.16 | 1.18 | 4.33 | 1.70 | 3.53 |
| rs200707504 | E220G | A767G | 0.00 | 0.00 | 0.00 | 0.55 | 0.00 | 0.00 | 0.00 |
| rs115629050 | A269S | G913T | 8.25 | 0.71 | 3.15 | 1.24 | 4.31 | 1.71 | 3.52 |
| rs114119971 | H284Q | C960G | 0.18 | 0.27 | 0.71 | 0.00 | 0.06 | 0.26 | 0.44 |
| rs202001817 | T290M | C977T | 1.21 | 0.03 | 0.19 | 0.02 | 2.86 | 1.87 | 0.11 |
| rs576295379 | N340K | T1128G | 0.00 | 0.00 | 0.01 | 0.00 | 0.55 | 0.01 | 0.11 |
| Haplotype | |||||||||
| D203E-A269S | 5.22 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | NA | ||
| S75N-D203E-A269S | 3.56 | 1.01 | 4.46 | 1.49 | 4.29 | 2.02 | NA | ||
Data were derived from the Exome Aggregation Consortium (ExAC) browser (http://exac.broadinstitute.org/) and 1000 Genome Database (http://useast.ensembl.org/Homo_sapiens/Info/Index). FINN, Finnish; NA, not available.