Association of genetic polymorphisms in genes involved in Ara-C and dNTP metabolism pathway with chemosensitivity and prognosis of adult acute myeloid leukemia (AML)

Table 1 Candidate SNPs selected in the study and influence on gene expression according to eQTL database

SNP	Gene	Position	MAF	Alleles	Region	eQTL P
rs7543016	CMPK1	1:47333967	0.467	C/G	Gly8Arg	0.3
rs3760468	NME1	17:51153130	0.376	A/T	Promoter	2.3e⁻²¹
rs2302254	NME1	17:51153539	0.087	C/T	Promoter	2.7e⁻¹³
rs3744660	NME2	17:51168540	0.162	A/G	Intron	2.5e⁻¹²
rs6102991	SAMHD1	20:36956238	0.386	A/G	Promoter	2.0e⁻⁶
rs28372906	SAMHD1	20:36951753	0.063	C/T	5′-UTR	NA
rs6029941	SAMHD1	20:36891027	0.447	A/G	3′-UTR	2.1e⁻⁸
rs3213150	E2F1	20:33687284	0.357	C/T	Intron	NA
rs3213180	E2F1	20:33675818	0.286	C/G	3′-UTR	NA
rs2412344	RRM1	11:4086354	0.430	C/T	Promoter	1.1e⁻⁶
rs183484	RRM1	11:4119902	0.381	G/T	Arg284Arg	9.4e⁻⁶
rs1130609	RRM2	2:10122793	0.343	G/T	5′-UTR/Ser59Ala	1.2e⁻⁷

ISSN: 1479-5876