Table 7. Nonsense SNPs with known pathological effects.
Acc# | Chr | Gene symbol | SNP | Variation | OMIM | Biological effects |
M60092 | 1 | AMPD1 | rs17602729 | Gln12Ter | 102770 | AMPD deficiency |
M12272 | 4 | ADH1C | rs283413 | Gly78Ter | 103730 | Parkinson disease |
BC073741 | 7 | PGAM2 | rs10250779 | Trp78Ter | 261670 | Myopathy |
AF000571 | 11 | KCNQ1 | rs17215500 | Arg518Ter | 607542 | Long QT syndrome 1 |
AY358222 | 11 | CASP12 | rs497116 | Arg125Ter | 608633 | Sepsis susceptibility |
M86407 | 11 | ACTN3 | rs2228325 | Arg577Ter | 102574 | Athletic performance |
L41870 | 13 | RB1 | rs3092891 | Arg445Ter | 180200 | Bilateral retinoblastoma |
AF068760 | 15 | BUB1B | rs28989186 | Arg194Ter | 602860 | Premature chromatid separation trait and mosaic variegated aneuploidy syndrome |