Table II.

Description of SNPs genotyped in the HFE genomic region and frequencies in cases and controls

SNP	Gene	SNP locationa	Aminoacid change	Allelesb	MAF CEU (%)c	Cases/controls genotyped	MAF (controls) (%)	HWE test P value (controls)
rs4529296	HFE	Flanking 5′ UTR	—	C/G	40.0	363/1277	37.2	0.81
rs1799945	HFE	Coding	H63D	C/G	12.9	323/1157	12.7	0.29
rs1800562	HFE	Coding	C282Y	G/A	4.2	365/1283	4.2	0.48
rs1572982	HFE	Intron	—	G/A	42.0	365/1282	45.6	0.12
rs707889	HFE	Flanking 3′ UTR	—	C/T	20.0	365/1277	19.3	0.09
rs1045537	HFE	Flanking 3′ UTR	—	G/C	12.7	365/1283	10.5	0.23
rs17596719	HFE	Flanking 3′ UTR	—	G/A	12.5	365/1282	12.4	0.70
rs6918586	HFE	Flanking 3′ UTR	—	T/C	35.8	365/1280	39.6	0.82
rs1543680	HIST1H4C	Flanking 5′ UTR	—	G/A	20.0	362/1282	18.9	0.14

^aSNP location relative to the gene.

^bThe more common allele in Caucasians reported first.

^cHapMap CEU, from dbSNP build 131.