Table 1.

Single nucleotide polymorphisms (SNP) of ABCG5 and ABCG8 of the Swiss/German proband and the two Amish-Mennonite probands

Gene	SNP	Position	refSNP	Swiss/German	Amish 1	Amish 2
ABCG5	EXI	P9P		CC	CC	CC
	EX2	R50C	rs6756629	CC	CC	CC
	EX11	V523I		AA	AA	AA
	EX13	C600Y		GG	GG	GG
	EX13	Q604E	rs6720173	GG	GG	GG
	EX13	V622M		AA	AA	AA
ABCG8	5′UTR	41		CC	CC	CC
	5′UTR	19	rs11887534	GG	GG	TT^a
	EX1	P17P		CC	CC	CC
	EX1	D19H		GG	GG	GG
	INT1	21		CA	CA	CA
	INT1	7		CT	CT	TT^a
	EX2	C54Y	rs4148211	GG	GG	GG
	EX6	E238L		GG	GG	GG
	EX6	A259V		CC	CC	CC
	EX7	Q340E		GG	GG	GG
	EX8	T400K	rs9282575	CC	CC	CC
	INT9	19		CC	CC	CC
	INT10	50		CC	CC	CC
	EX11	A565A	rs4148217	CC	CC	CT^a
	EX11	G575R		GG	GG	GG
	EX13	A632V	rs6544718	CC	CC	CC

The minor differences in one of the Amish-Mennonite proband.

Note the high degree of SNP conservation as well as homozygosity of the SNPs at the STSL locus.