Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study

Table 3 Single nucleotide variant information for low frequency functional mutations

Gene	NOS3	COL2A1	COL2A1	CR2
First priority	Third	Second	First1	Second
SNP ID		rs41263847	rs371445823	rs45573035
Ref allele	G	G	C	C
Alt allele	A	A	T	G
Chrs	7	12	12	1
Position	1.51E+08	48377898	48390360	2.08E+08
Strand orientation	+	−	−	+
Gene region	Exonic	Exonic	Exonic	Exonic
Function	Nonsynonymous SNV	Nonsynonymous SNV	Nonsynonymous SNV	Nonsynonymous SNV
SIFT score	0.128	0.24	0.061	0.958
SIFT Score Pred	T	T	T	T
POLYPhen V2 Score	0.845	0.356	0.938	0
POLYPhen V2 Score pred	P	B	P	B
MutationTaster	1	1	1	1
MutationTaster Pred	D	D	D	N
Cadd	3.677832	2.954573	3.523652	−1.25999
Dann	0.999	0.995	0.996	0.129
Eigen	0.1917	−0.0992	0.1764	−1.5893
Kaviar_20150923		0.002186	1.29E-05	0.00066
1000g_chbs		0.0203		0.0254
esp6500		0.000077	0.000077
ExAC03		0.0026	1.65E-05	0.0007
ExAC03_EAS		0.0307	0	0.0097

CR2: Complement C3d receptor 2; NOS3: Nitric oxide synthase 3; COL2A1: Collagen type II alpha 1 chain.