Table 1 Frequencies of the HFE c.845 G > A (C282Y) and c.187 C>G (H63D) variants in the UKB by population group

Group	N	c.845 G>A (p.Cys282Tyr)				c.187 C > G (p.His63Asp)
		MAC	MAF	q2	one in	MAC	MAF
Genomically British	408,780	63,763	0.0780	0.00608	164	123,466	0.1510
German	2088	254	0.0608	0.00370	270	617	0.1477
French	801	80	0.0499	0.00249	401	285	0.1779
Polish	612	42	0.0343	0.00118	849	182	0.1487
Italian	808	31	0.0192	0.00037	2.7k	230	0.1423
Ashkenazi Jewish	2868	71	0.0124	0.00015	6.5k	724	0.1262
Afro-Caribbean	2171	34	0.0078	0.00006	16k	70	0.0161
Sri Lankan	654	3	0.0023	0.00001	190k	133	0.1017
British Indian	5317	23	0.0022	0.00000	213k	834	0.0784
British Pakistani	1645	4	0.0012	0.00000	676k	239	0.0726
Kenyan	1049	2	0.0010	0.00000	1 M	170	0.0810
East Asian	2244	2	0.0004	0.00000	5 M	134	0.0299
West African	1317	0	0.0000	0.00000	>6 M	15	0.0057

The groups in Table 1 are ordered by decreasing MAF of p.Cys282Tyr. Genomically British were identified by UK Biobank (Data field 22006). Otherwise, data were taken from UKB volunteers either reporting birthplaces in Germany, France, Poland, Italy, Sri Lanka or Kenya, who matched the majority ancestry group from that nation using dbscan (Methods), or those self-declaring their ethnicity as Afro-Caribbean, British Indian, British Pakistani or West African. Ashkenazi Jewish and East Asian frequencies are taken from the UKB allele frequency browser, because this ancestry was not available through self-report in UKB and there were too few individuals born in any single East Asian nation, respectively. In this way, the major groups living in the UK (with >500 volunteers in the UKB) are represented.
MAC minor allele count, MAF minor allele frequency, q2 predicted frequency of p.Cys282Tyr homozygotes, themajor risk genotype; ‘one in’ gives the ratio of people in each population group who carry the major risk genotype, k thousand, M million.

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