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. 2020 Jun 19;11:3150. doi: 10.1038/s41467-020-16819-z

Table 3.

Human MLKL brace helix compound heterozygotes in CRMO vs healthy controls.

Population Frequency of relevant compound Hetsa in CRMO Frequency of relevant compound Hetsa in healthy controls CRMO:Healthyb 2 tailed P value (Fisher’s exact) 2 tailed P value (chi square with Yate’s)
Globalc 0.023 (3/128) 0.0008 (2/2504) NIH 1KG 29:1 0.001 0.0001
Europeand 0.02 (2/101) 0.002 (1/503) NIH 1KG 10:1 0.074 0.1215
Europeand 0.02 (2/101) 0.0017 (25/14,542) QUT controls 12:1 n/a 0.0022

aCombinations of R146Q – rs34515646, S132P – rs35589326 and G202*V – rs144526386 (Fig. 5e).

bFrequency ratio rounded to nearest whole number.

cCRMO patients and healthy controls of all ancestries included.

dCRMO patients and healthy controls of only European descent included.