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. 2013 Jan 7;8(1):e53453. doi: 10.1371/journal.pone.0053453

Table 4. Frequency of the subset of catalytically defective SIAE variants genotyped by Hunt et al. [7].

Cohort R479C F404S Y349C R314H Q309P G212R C196F W48X All 8
UK Disease 11/22718 0/22718 6/22718 7/22713 4/22716 1/22717 54/22718 2/22717 85/22718
UK Controls 1/8274 1/8274 2/8274 2/8274 4/8274 0/8274 13/8274 0/8274 23/8274
Odds Ratio 4.01 1.09 1.28 0.36 1.5153 1.3479
All Disease 11/30618 0/30616 9/30618 9/30618 5/30618 1/30618 61/30618 2/30618 98/30618
All Controls 1/12728 1/12737 2/12727 3/12734 4/12737 0/12738 25/12738 0/12727 36/12739
Odds Ratio 4.57 1.87 1.25 0.52 1.0145 1.132