Table 1.
Protein-altering variants in the EpiHealth cohort with ≥10 participants homozygous for minor allelesa.
| rsID | Chromosome | Position (b37) | Minor/Major allele | N (aa) | N (aA) | Locus |
|---|---|---|---|---|---|---|
| rs1137101 | 1 | 66058513 | A/G | 531 | 1,090 | LEPR |
| rs1935 | 10 | 64927823 | G/C | 528 | 1,113 | JMJD1C |
| rs492594 | 2 | 169764176 | C/G | 474 | 1,038 | G6PC2 |
| rs13928 | 7 | 44153780 | G/A | 451 | 1,112 | AEBP1 |
| rs3784634 | 15 | 62259637 | C/T | 445 | 1,055 | VPS13C |
| rs10851704 | 15 | 62202482 | C/T | 421 | 1,064 | VPS13C |
| rs1208 | 8 | 18258316 | G/A | 377 | 1,074 | NAT2 |
| rs5215 | 11 | 17408630 | C/T | 367 | 1,034 | KCNJ11 |
| rs5219 | 11 | 17409572 | T/C | 366 | 1,035 | KCNJ11 |
| rs12529 | 10 | 5136651 | G/C | 303 | 1,014 | AKR1C3 |
| rs9938550 | 16 | 30999142 | A/G | 276 | 1,021 | HSD3B7 |
| rs1260326 | 2 | 27730940 | T/C | 261 | 980 | GCKR |
| rs11057401 | 12 | 124427306 | A/T | 240 | 981 | CCDC92 |
| rs13266634 | 8 | 118184783 | T/C | 221 | 937 | SLC30A8 |
| rs1169288 | 12 | 121416650 | C/A | 216 | 1011 | HNF1A |
| rs9814557 | 3 | 135720540 | G/A | 215 | 964 | PPP2R3A |
| rs17197552 | 3 | 135722264 | G/A | 215 | 965 | PPP2R3A |
| rs56200889 | 11 | 72408055 | C/G | 197 | 890 | ARAP1 |
| rs61748245 | 2 | 165476253 | A/T | 179 | 876 | GRB14 |
| rs2464196 | 12 | 121435427 | A/G | 177 | 935 | HNF1A |
| rs1799930 | 8 | 18258103 | A/G | 172 | 931 | NAT2 |
| rs1137100 | 1 | 66036441 | G/A | 171 | 952 | LEPR |
| rs6779903 | 3 | 135720851 | T/G | 153 | 847 | PPP2R3A |
| rs321776 | 5 | 55407542 | T/C | 151 | 861 | ANKRD55 |
| rs17570 | 19 | 33878837 | A/G | 141 | 847 | PEPD |
| rs1800437 | 19 | 46181392 | C/G | 104 | 779 | GIPR |
| rs10761725 | 10 | 64974537 | A/T | 84 | 716 | JMJD1C |
| rs17244632 | 2 | 165551404 | A/G | 75 | 670 | COBLL1 |
| rs17185413 | 11 | 61730553 | C/T | 71 | 675 | BEST1 |
| rs479661 | 2 | 169721377 | G/A | 65 | 590 | NOSTRIN |
| rs7657817 | 4 | 89668859 | T/C | 60 | 615 | FAM13A |
| rs9898682 | 17 | 41738823 | A/G | 52 | 445 | MEOX1 |
| rs12453522 | 17 | 41931375 | G/A | 49 | 555 | CD300LG |
| rs10445686 | 2 | 135893372 | G/A | 45 | 477 | RAB3GAP1 |
| rs7607980 | 2 | 165551201 | C/T | 40 | 490 | COBLL1 |
| rs12440118 | 15 | 42744094 | G/A | 39 | 513 | ZFP106 |
| rs8940 | 7 | 116146074 | G/C | 35 | 514 | CAV2 |
| rs1801282 | 3 | 12393125 | G/C | 31 | 561 | PPARG |
| rs7130656 | 11 | 45832509 | G/A | 30 | 477 | SLC35C1 |
| rs12702 | 15 | 44093927 | C/T | 24 | 315 | C15orf63 |
| rs328 | 8 | 19819724 | G/C | 17 | 372 | LPL |
| rs12907567 | 15 | 62214607 | T/C | 13 | 284 | VPS13C |
| rs11629598 | 15 | 62243197 | C/T | 13 | 284 | VPS13C |
| rs2303405 | 15 | 62253791 | C/T | 13 | 281 | VPS13C |
| rs10488698 | 11 | 116633947 | A/G | 13 | 285 | BUD13 |
| rs74459242 | 2 | 165578602 | T/C | 10 | 252 | COBLL1 |
List of protein-altering variants annotated in the NHLBI Exome Sequencing Project.
a
The genotype counts refers to unrelated individuals of European descent for which the association tests were performed.