TABLE 1.
(A) | ||||
---|---|---|---|---|
MAF Range | SNP: N=2056 | Complex: N=160 | ||
Known variants | Novel variants | Known variants | Novel variants | |
0%–0.5% | 557 | 664 | 39 | 47 |
0.5%–1% | 109 | 29 | 3 | 3 |
1%–5% | 259 | 21 | 20 | 11 |
5%–10% | 93 | 0 | 10 | 5 |
10%–25% | 99 | 0 | 11 | 5 |
25%–50% | 225 | 0 | 6 | 0 |
(B) | |||||
---|---|---|---|---|---|
Total | SNP | Indels | |||
Known Variants | Novel Variants | Known Variants | Novel Variants | ||
Genic | 765 | 597 | 106 | 36 | 26 |
Exonic | 45 | 33 | 9 | 2 | 1 |
Synonymous | 1 | 1 | 0 | 0 | 0 |
Nonsynonymous | 7 | 4 | 3 | 0 | 0 |
Noncoding RNA | 21 | 16 | 4 | 1 | 0 |
5' UTR | 2 | 1 | 1 | 0 | 0 |
3' UTR | 14 | 11 | 1 | 1 | 1 |
Intronic | 720 | 564 | 97 | 34 | 25 |
Splicing | 2 | 2 | 0 | 0 | 0 |
Intergenic | 526 | 436 | 51 | 28 | 11 |
(C) | ||||||
---|---|---|---|---|---|---|
Top longevity variants | Chr9 position (hg19) | Allele | MAF (case) | MAF (con) | p Value | Function |
rs74605971 | 21,947,885 | T > A | 0.052 | 0.095 | 0.00044 | Intergenic |
rs12335941 | 21,955,669 | G > A | 0.339 | 0.413 | 0.00091 | Intergenic |
rs11521166 | 21,948,376 | C > T | 0.053 | 0.092 | 0.00147 | Intergenic |
rs111310495 | 21,990,187 | A > G | 0.002 | 0.016 | 0.00158 | Intronic |
Novel | 22,068,072 | G > A | 0.002 | 0.016 | 0.00158 | ncRNA_intronic |
rs10757261 | 21,954,953 | A > G | 0.351 | 0.422 | 0.00159 | Intergenic |
rs2106118 | 21,949,528 | T > A | 0.401 | 0.473 | 0.00165 | Intergenic |
rs2106117 | 21,949,527 | T > G | 0.402 | 0.472 | 0.00226 | Intergenic |
rs10738612 | 22,174,103 | T > C | 0.438 | 0.506 | 0.00323 | Intergenic |
rs2518722 | 21,952,926 | C > T | 0.244 | 0.304 | 0.00398 | Intergenic |