Table 1 hOCT1 SNPs examined, defined by... | American Society of Hematology

Table 1

hOCT1 SNPs examined, defined by rs number and (where exonic) their amino acid (AA) translation

Analyzed dbSNP ID	AA translation	Region	Alleles	HWpval	Observed MAF	MAF in NCBI	Function	Reference(s)
rs6935207		5′near gene	G:A	0.105	A: 0.257	A: 0.345
rs9457840		5′near gene	T:C	1.000	C: 0.020	C: 0.065
rs6899549		5′near gene	T:C	0.003	C: 0.003	C: 0.013
rs34447885*	C14F	Exon 1	C:T	1.000	0	T: 0.005	Reduced MPP, increased Metformin transport	12, 26
rs12208357	R61C	Exon 1	C:T	1.000	T: 0.067	T: 0.027	Reduced MPP and Metformin transport	9, 26
rs45584532		Intron	C:T	1.000	T: 0.177	T: 0.101
rs683369	L160F	Exon 2	C:G	0.434	G: 0.217	G: 0.129	Loss of response, imatinib failure	14
rs594709†		Intron	A:G	0.623	G: 0.368	G: 0.313
rs36103319	G220V	Exon 3	G:T	1.000	T: 0.002	T: 0.001	Reduced MPP transport	9, 26
rs3777392		Intron	G:A	1.000	A: 0.092	A: 0.090
rs2282143	P341L	Exon 6	C:T	1.000	T: 0.02	T: 0.058	Reduced MPP and Metformin transport	9, 26
rs6937722*		Intron	G:A	1.000	A: 0.05	A: 0.022
rs35191146‡	M420del	Exon 7	G/GAT/-	0.412	(-): 0.154	(-): 0.155	Reduced MPP and Metformin transport	12
rs1867350		Intron	G:A	0.088	A: 0.124	A: 0.144
rs9295122*		Intron	C:T	0.757	T: 0.42	T: 0.411
rs622342		Intron	A:C	0.593	C: 0.359	C: 0.272
rs11753995*		Intron	G:A	1.000	A: 0.149	A: 0.099
rs34059508	G465R	Exon 9	G:A	0.048	A: 0.031	A: 0.008	Reduced MPP and Metformin transport	9, 26
rs35270274	R488T	Exon 9	G:T	1.000	T: 0.002	T: 0.011
rs622591		Intron	G:A	0.384	A: 0.219	A: 0.337
rs9457846		3′UTR	G:A	0.335	A: 0.09	A: 0.002
rs651164		3′UTR	G:A	0.122	A: 0.353	A: 0.367
rs2083867		3′UTR	A:G	0.267	G: 0.389	G: 0.381
rs628031 tagged to rs594709†	M408V	Exon 7	G:A	0.623	A: 0.368	A: 0.302

Analyzed dbSNP ID	AA translation	Region	Alleles	HWpval	Observed MAF	MAF in NCBI	Function	Reference(s)
rs6935207		5′near gene	G:A	0.105	A: 0.257	A: 0.345
rs9457840		5′near gene	T:C	1.000	C: 0.020	C: 0.065
rs6899549		5′near gene	T:C	0.003	C: 0.003	C: 0.013
rs34447885*	C14F	Exon 1	C:T	1.000	0	T: 0.005	Reduced MPP, increased Metformin transport	12, 26
rs12208357	R61C	Exon 1	C:T	1.000	T: 0.067	T: 0.027	Reduced MPP and Metformin transport	9, 26
rs45584532		Intron	C:T	1.000	T: 0.177	T: 0.101
rs683369	L160F	Exon 2	C:G	0.434	G: 0.217	G: 0.129	Loss of response, imatinib failure	14
rs594709†		Intron	A:G	0.623	G: 0.368	G: 0.313
rs36103319	G220V	Exon 3	G:T	1.000	T: 0.002	T: 0.001	Reduced MPP transport	9, 26
rs3777392		Intron	G:A	1.000	A: 0.092	A: 0.090
rs2282143	P341L	Exon 6	C:T	1.000	T: 0.02	T: 0.058	Reduced MPP and Metformin transport	9, 26
rs6937722*		Intron	G:A	1.000	A: 0.05	A: 0.022
rs35191146‡	M420del	Exon 7	G/GAT/-	0.412	(-): 0.154	(-): 0.155	Reduced MPP and Metformin transport	12
rs1867350		Intron	G:A	0.088	A: 0.124	A: 0.144
rs9295122*		Intron	C:T	0.757	T: 0.42	T: 0.411
rs622342		Intron	A:C	0.593	C: 0.359	C: 0.272
rs11753995*		Intron	G:A	1.000	A: 0.149	A: 0.099
rs34059508	G465R	Exon 9	G:A	0.048	A: 0.031	A: 0.008	Reduced MPP and Metformin transport	9, 26
rs35270274	R488T	Exon 9	G:T	1.000	T: 0.002	T: 0.011
rs622591		Intron	G:A	0.384	A: 0.219	A: 0.337
rs9457846		3′UTR	G:A	0.335	A: 0.09	A: 0.002
rs651164		3′UTR	G:A	0.122	A: 0.353	A: 0.367
rs2083867		3′UTR	A:G	0.267	G: 0.389	G: 0.381
rs628031 tagged to rs594709†	M408V	Exon 7	G:A	0.623	A: 0.368	A: 0.302

Our observed MAF and the reported MAF from NCBI are given.

HWpval indicates the HWE values.

SNPs run in a 4-plex reaction and

SNPs run by pyrosequencing (the rest of the SNPs were run on an 18-plex reaction).

M408V was tagged to rs594709 with a D′ = 1 and r² = 0.89.