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. 2020 May 25;11(5):586. doi: 10.3390/genes11050586

Table 5.

Top Gene-level Association Signals for Genes with Multi-allelic Sites. We performed simple burden, SKAT, and VT tests under the two different minor allele frequency cutoffs, 0.01 and 0.05. No results were significant under the threshold α=2.5×106. For each rare-variant test performed, we show the test statistics, p-values, the number of variant sites, and the number of multi-allelic variant sites for the top 3 signals.

Gene Statistic p-Value Number of Variant Site Number of Multi-allelic Site Number of Multi-allelic Site with Rare Variant Gene Statistic p-Value Number of Variant Site Number of Multi-allelic Site Number of Multi-allelic Site with Rare Variant
Burden Test with MAF < 1% Burden Test with MAF < 5%
MLKL 16.81 4.1 × 10−5 16 8 4 PTPN22 13.49 0.00024 19 10 3
DMBX1 13.11 0.00029 4 2 2 CROCC 11.14 0.00085 80 11 8
BRD3 10.73 0.0011 5 6 4 HLA-DQA1 10.25 0.0014 6 15 0
SKAT Test with MAF < 1% SKAT Test with MAF < 5%
ABTB1 1,654,137.32 5.5 × 10−5 12 6 5 ABTB1 1,834,395.76 0.00015 12 6 5
SEMA7A 1,056,004.78 0.00032 5 2 1 DTNBP1 4,098,263.16 0.00049 7 6 5
METTL8 1,075,541.99 0.00036 6 15 8 NRBF2 1,454,883.06 0.00074 3 4 2
VT Test with MAF < 1% VT Test with MAF < 5%
TTC15 21.98 1.9 × 10−5 17 23 9 TTC15 21.98 2.46 × 10−5 17 23 9
MLKL 16.81 0.00031 16 8 4 WNK1 16.11 0.00049 41 25 8
ARHGEF40 15.08 0.00078 26 4 2 MLKL 15.71 0.00068 16 8 4