Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility

Table 1 Rare or frequency-unavailable variants associated with KD patients

Pt	Position	SNP ID	Gene	Exon	AA change	CDs	Accession	P Value	OR (95% CI)
4, 18, 22, 38, 47, 49, 56, 70, 73, 76, 84, 89	Chr10: 47,351,134	rs11204213	RBP3	Exon 1	p.V884M	c.2650G > A	NM_002900	0.0025^d	13.1963(1.8761; 574.6005)
91	Chr19: 50,281,727	rs752792064	MYH14	Exon 31	p.R1434Q	c.4301G > A	NM_024729	0.0346^d	8.3945(1.0870; 379.2676)
89	Chr19: 50,223,086	rs766546274		Exon 4	p.R189H	c.566G > A	NM_024729
88	Chr19: 50,280,044	NA		Exon 29	p.L1306R	c.3917T > G	NM_024729
88	Chr19: 50,301,707	rs368219210		Exon 38	p.A1798D	c.5393 C > A	NM_024729
63	Chr19: 50,301,790	rs187789045		Exon 38	p.R1826C	c.5476 C > T	NM_024729
30	Chr19: 50,293,670	rs377096949		Exon 37	p.R1777C	c.5329 C > T	NM_024729
20	Chr19: 50,292,282	rs761720529		Exon 35	p.R1676W	c.5026 C > T	NM_024729
6	Chr19: 50,244,260	rs150806988		Exon 10	p.S370L	c.1109 C > T	NM_024729

Note: Pt, patients; SNP, single nucleotide polymorphism; CHR, chromosome; AA, amino acid; OR, odd ratio; NA, not available
*Bold values: The statistically significant (p-values < 0.05). ^dSignificant p-value

ISSN: 1546-0096