Table 1.

Non-synonymous variants of ABCG2 found in this study

Type of variant	rs number	Position*	Change in DNA sequence†	AA change	Case (n)‡	MAF in case (%)	Control (n)‡	MAF in control (%)
Common variant	rs2231137	89061114	G34A	V12M	118	12.3	180	18.8
	rs72552713	89052957	C376T	Q126X	55	5.73	23	2.40
	rs2231142	89052323	C421A	Q141K	325	33.9	218	22.7
Rare variant		89052998	C335T	P112L	6	0.625	4	0.417
	rs149106245	89052361	A383T	D128V	2	0.208	1	0.104
	rs201006821	89052299	G445C	A149P	0	0	1	0.104
	rs199753603	89052289	T455C	M152T	1	0.104	0	0
		89052255	G489C	R163S	1	0.104	0	0
	rs746311704	89042944	G532A	V178I	1	0.104	1	0.104
	rs200190472	89039366	C736T	R246X	1	0.104	2	0.208
	rs34678167	89039297	C805T	P269S	3	0.313	2	0.208
		89039275	A827G	Y276C	0	0	1	0.104
	rs750972998	89034567	1079_1081delAGA	K360del	2	0.208	1	0.104
		89022427	G1322A	S441N	3	0.313	0	0
	rs752408502	89020584	G1384A	G462R	1	0.104	0	0
	rs192169063	89020503	T1465C	F489L	8	0.833	3	0.312
	rs868217328	89018737	1515delC	F506SfsX4	3	0.313	0	0
		89018730	G1522A	V508I	2	0.208	0	0
	rs548254708	89016686	C1723T	R575X	0	0	2	0.208
	rs200933122	89013532	T1822C	C608R	2	0.208	0	0
	rs748531218	89013495	A1859G	D620G	1	0.104	0	0
		89013453	C1901T	A634V	1	0.104	0	0
Total of rare variant carriers§					33		18
Total of participants					480		480

For all rare variants, there were only heterozygous and no homozygous participants.

*Positions refer to the GRCh37 assembly.

†Nucleotide numbering is based on the DNA reference sequence NM_004827.

‡Summary count of participants with homozygous or heterozygous variants.

§Count of participants with one or more rare variants.

AA, amino acid; ABCG2, ATP-binding cassette transporter subfamily G member 2; MAF, minor allele frequency.