. 2013 Jun 18;37(11):2289–2296. doi: 10.1007/s00264-013-1966-6

Table 2.

SNP markers in the NOS3 gene genotyped in this case–control study

rs No. (Alternative name)	Position	Amino acid substitution	Genotype^a			MAF			HWE^b
rs No. (Alternative name)	Position	Amino acid substitution	C/C	C/R	R/R	Control	Case^d	Total^d	Control	Case^c	Total^d
rs11771443	5’ UTR		CC	CT	TT	0.461	0.490	0.472	1.000	0.253	0.530
rs2070744 (T786C)	promoter		TT	CT	CC	0.113	0.065	0.094	0.149	0.581	0.292
rs1549758	Exon6	Asp258Asp (Synonym)	CC	CT	TT	0.135	0.186	0.155	1.000	0.483	0.728
rs1799983 (G894T)	Exon 7	Glu298Asp (Non-synonym)	GG	GT	TT	0.081	0.121	0.096	0.236	1.000	0.608
rs1800780	Intron 12		CC	CT	TT	0.400	0.351	0.381	0.123	0.424	0.089

MAF minor allele frequency, SNP single nucleotide polymorphism, SLE systemic lupus erythematosus, ONFH osteonecrosis of the femoral head

^a C/C: major homozygote, C/R: heterozygote, R/R: minor homozygote

^b HWE: P values of deviation from Hardy-Weinberg equilibrium

^c Case: SLE + SLE_ONFH

^d Total: control + case