Gene region | SNPs | rbSN | Non-rbSN | rbSN/SNPs | rbSN/non-rbSN |
---|---|---|---|---|---|
All | 3,830,264 | 1,038,347 | 2,791,917 | 0.27 | 0.37 |
Missense variants | 1,003,976 | 280,246 | 723,730 | 0.28 | 0.39 |
Missense variant and splice region variants | 15,275 | 4698 | 10,577 | 0.31 | 0.44 |
Synonymous variants | 725,171 | 190,732 | 534,439 | 0.26 | 0.36 |
3′ UTR variants | 401,263 | 108,147 | 293,116 | 0.27 | 0.37 |
Stop gained | 21,954 | 5766 | 16,188 | 0.26 | 0.36 |
Stop gained and splice region variants | 465 | 129 | 336 | 0.28 | 0.38 |
5′ UTR variants | 246,576 | 60,695 | 185,881 | 0.25 | 0.33 |
5′ UTR premature start codon gain variants | 36,060 | 9808 | 26,252 | 0.27 | 0.37 |
Intron variants | 1,254,339 | 344,296 | 910,043 | 0.27 | 0.38 |
Splice acceptor variant and intron variants | 3622 | 1001 | 2621 | 0.28 | 0.38 |
Splice region variants | 2359 | 674 | 1685 | 0.29 | 0.40 |
Splice donor variant and intron variants | 3581 | 1079 | 2502 | 0.30 | 0.43 |
Splice region variant and intron variants | 100,386 | 27,018 | 73,368 | 0.27 | 0.37 |
Splice region variant and stop retained variants | 22 | 7 | 15 | 0.32 | 0.47 |
Splice region variant and synonymous variants | 11,434 | 3078 | 8356 | 0.27 | 0.37 |
Start lost | 1031 | 281 | 750 | 0.27 | 0.37 |
Start lost and splice region variants | 11 | 3 | 8 | 0.27 | 0.38 |
Stop lost | 1277 | 356 | 921 | 0.28 | 0.39 |
Stop lost and splice region variants | 21 | 9 | 12 | 0.43 | 0.75 |
Stop retained variants | 1235 | 270 | 965 | 0.22 | 0.28 |
Initiator codon variants | 202 | 53 | 149 | 0.26 | 0.36 |
Initiator codon variant and splice region variants | 4 | 1 | 3 | 0.25 | 0.33 |