Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

BMC Medical Genetics

Table 4 Novel genetic variants with potential involvement in TMAU

Variants	Chr	Pos	Gene	MAF	Subject ID^a
SNPs in oxidoreductase pathways
rs61733458	3	148,916,215	CP	0.0110	52
rs34625494	17	41,002,169	AOC2	0.0032	62
rs72947591	18	9,887,167	TXNDC2	0.0179	52
rs116368403	19	41,600,254	CYP2A13	0.0046	122
Indels in oxidoreductase pathways
1 bp insertion	10	102,295,637	HIF1AN	0.0200	114
SNPs in DMGDH interactome
rs58580238	5	78,378,644	BHMT2	0.000154	56
rs35664470	9	136,584,082	SARDH	0.00692	99
rs78909145	17	18,243,524	SHMT1	0.00701	98
SNPs shared by at least two subjects
rs73891273	3	196,235,191	SMCO1	0.0445	62 & 99
rs77469804	6	110,679,450	METTL24	0.0262	114 & 122
rs77749341	7	149,462,317	ZNF467	0.0142	99 & 114
rs7091756	10	1,094,906	IDI1	0.0207	35 & 56
rs7956250	12	93,966,693	SOCS2	0.0257	99 & 122
rs55739813	15	41,803,754	LTK	0.0367	35 & 52
rs138735905	19	17,638,121	FAM129C	0.0193	64 & 98
rs114989947	22	17,265,194	XKR3	0.0344	99 & 113
rs41305431	X	103,495,552	ESX1	0.0266	113 & 114
Indels shared by at least two subjects
1 bp insertion —	1	158,533,298	OR6P1	0.0100	62 & 122

rs#: reference SNP identifier (does not apply to indels). Chr Chromosome, Pos base pair position in map GRCh37/hg19, MAF minor allele frequency^{. a}All subjects are homozygous for the minor allele

ISSN: 1471-2350