Table 2.

Association Analysis of RNF213 SNPs Other Than the p.R4810K Variant

Variant	dbSNP138 rs-ID	At-Risk Allele	MMD 11/12/22 (RAF)	Control 11/12/22 (RAF)	P Value	Odds Ratio [95% CI]	Conditional P Value
p.Pro61Leu	rs9913317	Pro	95/8/0 (0.961)	171/10/3 (0.956)	0.81	1.10 [0.50 to 2.42]	0.61
p.Met270Thr	rs17857135	Met	98/5/0 (0.975)	147/36/1 (0.896)	0.0013	4.86 [1.85 to 12.7]	0.059
p.Met321Thr	rs17853989	Met	98/5/0 (0.975)	148/36/0 (0.902)	0.0016	4.76 [1.80 to 12.5]	0.065
p.Pro729Leu	rs72849841	Pro	103/0/0 (1.00)	179/5/0 (0.986)	1.0	NA	1.0
p.Ala1041Thr	rs61359568	Ala	103/0/0 (1.00)	169/14/1 (0.956)	1.0	NA	1.0
p.Gln1133Lys	rs8082521	Gln	80/21/2 (0.878)	111/60/13 (0.766)	0.0023	2.09 [1.30 to 3.37]	0.98
p.Val1195Met	rs10782008	Val	71/29/3 (0.830)	89/74/21 (0.684)	0.00035	2.16 [1.41 to 3.31]	0.31
p.Glu1272Gln	rs9913636	Glu	70/30/3 (0.825)	100/71/13 (0.736)	0.017	1.68 [1.09 to 2.6]	0.77
p.Asp1331Gly	rs8074015	Asp	69/29/5 (0.810)	78/83/23 (0.649)	0.00011	2.26 [1.49 to 3.41]	0.34
p.Ser2334Asn	rs9674961	Ser	71/30/2 (0.835)	79/79/26 (0.644)	0.0000062	2.71 [1.76 to 4.18]	0.12
p.Asp2554Glu	rs138516230	Asp	103/0/0 (1.00)	174/9/1 (0.970)	1.0	NA	1.0
p.Cys3008Arg	rs61600413	Cys	101/2/0 (0.990)	171/13/0 (0.964)	0.081	3.83 [0.84 to 17.3]	0.54
p.Ala3468Val	rs142798005	Ala	101/2/0 (0.990)	180/4/0 (0.989)	0.90	1.12 [0.20 to 6.23]	0.61
p.Val3838Leu	rs35332090	Val	101/2/0 (0.990)	153/29/2 (0.910)	0.0020	9.71 [2.29 to 41.1]	0.10
p.Gly3915Glu	rs61740658	Gly	101/2/0 (0.990)	157/25/2 (0.921)	0.0043	8.21 [1.93 to 34.8]	0.14
p.Ala4399Thr	rs148731719	Thr	0/14/89 (0.067)	1/20/159 (0.061)	0.75	1.12 [0.55 to 2.25]	0.063

Allele 1 and 2 represent at-risk allele and other allele, respectively; 11, homozygous genotype for allele 1; 12, heterozygous genotype; 22, homozygous genotype for allele 2. MMD indicates Moyamoya disease; NA, not applicable; RAF, risk allele frequency; SNPs, single-nucleotide polymorphisms.