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. 2008 Oct 14;3(10):e3393. doi: 10.1371/journal.pone.0003393

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