Table 1.

Characteristics of the polymorphisms genotyped in the data set

Gene symbol	Gene name	rs no.	SNP functiona	Protein effect	Locationb	Allelesc	MAFd
BHMT1	Betaine-homocysteine methyltransferase	rs7356530	Intergenic	–	chr5:78400908	A/g	0.44
		rs3733890	Missense	Gln239Arg	chr5:78421959	a/G	0.28
BHMT2	Betaine-homocysteine methyltransferase 2	rs526264	Intron	–	chr5:78378410	a/T	0.43
		rs625879	Intron	–	chr5:78381689	G/t	0.43
CBS	Cystathionine-beta-synthase	844ins68	–e	–	chr21:44483195	W/insf	0.06
MTHFD1	Methylenetetrahydrofolate dehydrogenase 1	rs2236225	Missense	Arg653Gln	chr14:64908845	C/t	0.44
MTHFR	5,10-Methylenetetrahydrofolate reductase	rs1801133	Missense	Ala222Val	chr1:11856378	C/t	0.32
MTR	5-Methyltetrahydrofolate-homocysteine methyltransferase	rs1805087	Missense	Asp919Gly	chr1:237048500	A/g	0.25
MTRR	Methionine synthase reductase	rs1801394	Missense	Met22Ile	chr5:7870973	A/g	0.45
TCN2	Transcobalamin II	rs1801198	Missense	Arg259Pro	chr22:31011610	C/g	0.44

^aAccording to the Single Nucleotide Polymorphism database (dbSNP)

^bBased on UCSC Human Genome Browser, February 2009 human reference sequence (GRCh37)

^cUppercase denotes the more frequent allele in the control samples

^dMAF, minor allele frequency calculated from the control samples

^e844ins68 is a 68 bp insertion in exon 8 of CBS

^fW, wild allele; ins, allele with insertion