Table 2. Genotype frequencies of the analyzed SNPs by study population.

	LAMTOR2	LAMTOR3
	rs7541	rs2298735	rs148972953
Chromosome: Base pair position	1∶156,025,096	4∶100,815,617	4∶100,802,946
Located in:	Exon 2	5′UTR	3′UTR
Ancestral/derived allele	C/T	T/G	A/G
SNP effect	Synonym	–	–
GD: AA/Aa/aa: Sequencing	66.0/28.0/6.0%	28.0/40.0/32.0%	92.0/8.0/0.0%
GD: AA/Aa/aa: RPBCMS	75.4/22.2/2.4%	39.1/45.2/15.7%	96.5/3.5/0.0%
GD: AA/Aa/aa: SAPHIR women	70.3/27.0/2.7%	39.5/44.5/16.0%	96.0/3.9/0.1%
GD: AA/Aa/aa: MARIE cases	n.a.	n.a.	97.1/2.9/0.0%
GD: AA/Aa/aa: MARIE controls	n.a.	n.a.	97.3/2.7/0.0%
MAF: Sequencing (n = 50)	20.0%	52.0%	4.0%
MAF: RPBCMS (n = 296)	13.5%	38.3%	1.7%
MAF: SAPHIR women (n = 640)	16.2%	38.2%	2.1%
MAF: MARIE cases (n = 2,715)	n.a.	n.a.	1.5%
MAF: MARIE controls (n = 5,216)	n.a.	n.a.	1.4%
HWE p-value: Sequencing	0.376	0.159	0.768
HWE p-value: RPBCMS	0.387	0.466	0.764
HWE p-value: SAPHIR women	0.900	0.140	0.153
HWE p-value: MARIE cases	n.a.	n.a.	0.435
HWE p-value: MARIE controls	n.a.	n.a.	0.316

Notes:

Call rates in all study populations were above 98%.

MAF… Minor allele frequency.

HWE… p-value for test for Hardy-Weinberg-Equilibrium (Chi-Square test).

GD… Genotype distribution (in %).

RPBCMS… Risk Prediction of Breast Cancer Metastasis Study.