Table 4.
Allele frequency distribution of SNPs (n = 39) studied in the AIR registry
Gene or nearest gene |
SNP ID | Chromosome position using genome build 37.3 |
Chromosome | Major allele |
Major allele frequency |
Minor allele |
Minor allele frequency |
---|---|---|---|---|---|---|---|
NOTCH2 | rs10923931 | 120,517,959 | 1 | G | 0.9322 | T | 0.0678 |
PROX1 | rs340874 | 214,159,256 | 1 | T | 0.6140 | C | 0.3860 |
GCKR | rs780094 | 27,741,237 | 2 | C | 0.6797 | T | 0.3203 |
G6PC2 | rs560887 | 169,763,148 | 2 | C | 0.8726 | T | 0.1274 |
THADA | rs7578597 | 43,732,823 | 2 | T | 0.9450 | C | 0.0550 |
ADAMTS9 | rs4607103 | 64,711,904 | 3 | C | 0.6647 | T | 0.3353 |
ADCY5 | rs11708067 | 123,065,778 | 3 | A | 0.6902 | G | 0.3098 |
IGF2BP2 | rs4402960 | 185,511,687 | 3 | G | 0.7187 | T | 0.2813 |
SLC2A2 | rs11920090 | 170,717,521 | 3 | T | 0.8746 | A | 0.1254 |
WFS1 | rs10010131 | 6,292,915 | 4 | G | 0.7187 | A | 0.2813 |
CDKAL1 | rs10946398 | 20,661,034 | 6 | A | 0.7058 | C | 0.2942 |
GCK | rs4607517 | 44,235,668 | 7 | G | 0.7902 | A | 0.2098 |
JAZF1 | rs864745 | 28,180,556 | 7 | T | 0.6609 | C | 0.3391 |
LOC100128217 | rs2191349 | 15,064,309 | 7 | G | 0.5957 | T | 0.4043 |
SLC30A8 | rs13266634a | 118,184,783 | 8 | C | 0.7777 | T | 0.2223 |
SLC30A8 | rs11558471a | 118,185,733 | 8 | A | 0.7610 | G | 0.2390 |
CDKN2A/B | rs10811661 | 22,134,094 | 9 | T | 0.8740 | C | 0.1260 |
GLIS3 | rs7034200 | 4,289,050 | 9 | A | 0.5685 | C | 0.4315 |
HHEX | rs1111875 | 94,462,882 | 10 | C | 0.6342 | T | 0.3658 |
LOC100420392 | rs10885122 | 113,042,093 | 10 | G | 0.8548 | T | 0.1452 |
TCF7L2 | rs7901695b | 114,754,088 | 10 | T | 0.7413 | C | 0.2587 |
TCF7L2 | rs4506565b | 114,756,041 | 10 | A | 0.7392 | T | 0.2608 |
TCF7L2 | rs7903146b | 114,758,349 | 10 | C | 0.7610 | T | 0.2390 |
TCF7L2 | rs12243326b | 114,788,815 | 10 | T | 0.8094 | C | 0.1906 |
TCF7L2 | rs12255372b | 114,808,902 | 10 | G | 0.8048 | T | 0.1952 |
CRY2 | rs11605924 | 45,873,091 | 11 | A | 0.5026 | C | 0.4974 |
FADS1 | rs174550 | 61,571,478 | 11 | C | 0.6137 | T | 0.3863 |
KCNJ11 | rs5215 | 17,408,630 | 11 | T | 0.6392 | C | 0.3608 |
MADD | rs7944584 | 47,336,320 | 11 | A | 0.8586 | T | 0.1414 |
MTNR1B | rs10830963 | 92,708,710 | 11 | C | 0.7689 | G | 0.2311 |
IGF1 | rs35767 | 102,875,569 | 12 | G | 0.7888 | A | 0.2112 |
TSPAN8 | rs7961581 | 71,663,102 | 12 | T | 0.8237 | C | 0.1763 |
FTO | rs8050136c | 53,816,275 | 16 | C | 0.7435 | A | 0.2565 |
FTO | rs3751812c | 53,818,460 | 16 | G | 0.7704 | T | 0.2296 |
FTO | rs9939609c | 53,820,527 | 16 | T | 0.7435 | A | 0.2565 |
FTO | rs17818902 | 53,871,806 | 16 | T | 0.7456 | G | 0.2544 |
FTO | rs7203051 | 53,876,149 | 16 | G | 0.5962 | C | 0.4038 |
FTO | rs1075888 | 54,053,311 | 16 | T | 0.5212 | G | 0.4788 |
HNF1B | rs4430796 | 36,098,040 | 17 | A | 0.5927 | G | 0.4073 |
Two SNPs in the SLC30A8 gene are in strong LD with r2 = 0.90.
Five SNPs in the TCF7L2 gene are in strong LD with r2 ranging from 0.86 to 0.99.
Three SNPs in the FTO gene are in strong LD with r2 ranging from 0.87 to 0.98.