Are minor alleles more likely to be risk alleles?

BMC Medical Genomics

Table 1 SNVs with different MAFs whose risk alleles are minor alleles

MAF interval	Total number	SNVs whose risk alleles are minor alleles	Proportion^a	Lower limit^b	Upper limit^b	P-value^c
(0–0.1)	476	378	0.794	0.755	0.830	< 2.2E-16
(0.1–0.2)	616	389	0.631	0.592	0.670	6.8E-11
(0.2–0.3)	698	417	0.597	0.560	0.634	2.97E-07
(0.3–0.4)	723	440	0.609	0.572	0.644	5.75E-09
(0.4–0.5)	771	456	0.591	0.556	0.626	4.29E-07

^aProportion of SNVs whose risk alleles are minor alleles
^bLower and upper limits of the 95% confidence interval for the proportion as determined by the Clopper–Pearson method
^cP-value for the binomial test with the null hypothesis that the proportion is 0.5

ISSN: 1755-8794