Association of LAMA1 Single-Nucleotide Polymorphisms with Risk of Esophageal Squamous Cell Carcinoma among the Eastern Chinese Population

Table 2

Primary information of LAMA1.

Gene	LAMA1
Genotyped SNP	rs62081531	rs621993	rs539713	rs566655	rs73938538	rs607230
Allele	G > A	G > A	A > G	T > G	A > C	T > C
Consequence	Synonymous variant	Synonymous variant	Stop gained	Missense variant	Synonymous variant	Stop gained
RegulomeDB rank^†	7	4	5	5	5	4
Chromosome	18
Chromosome position^‡	6986260	7033038	7017323	7034509	7008584	6980524
MAF in control	A = 0.1810	A = 0.1731	G = 0.2768	G = 0.1432	C = 0.1142	T = 0.1913
MAF in 1000 genomes
Global	A = 0.1378	A = 0.4065	G = 0.5475	G = 0.1502	C = 0.1717	T = 0.3063
East Asian	A = 0.1915	A = 0.1319	G = 0.2262	G = 0.1042	C = 0.1091	T = 0.1756
MAF in gnomAD-genomes
Global	A = 0.178903	A = 0.468719	G = 0.612173	G = 0.203225	C = 0.157585	T = 0.319456
East Asian	A = 0.1986	A = 0.1629	G = 0.2540	G = 0.1313	C = 0.1097	T = 0.1621
value for the HWE test in the controls	0.9432	0.9743	0.9996	0.7212	0.8633	0.6770
Genotyping method	LDR
% genotyping value	98.90%	98.95%	98.95%	98.95%	98.86%	98.03%

^†https://www.regulomedb.org/. ^‡Based on Genome Reference Consortium Human Build 38(GRCh38).