Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing

Table 4 Family-specific common and rare variants in Family B

	Common variant						Functional prediction program
Gene	RS#	Chr	POS	Amino acid change	Type	SIFT	Polyphen2	PhyloP	PhastCons	Global	East Asian	Korean
COL6A6	59021909	chr3	130,285,929	P556S	cSNP	0.11	0.999	2.136	0.997	0.09	0.08	0.119
UVSSA	2276904	chr4	1,349,029	R391H	cSNP	.	.	.	.	0.23	0.42	0.374
TUFT1	3828054	chr1	151,512,895	Q18R	cSNP	0.77	0.688	1.688	0.763	0.1	0.03	0.047
TMEM175	34311866	chr4	951,947	M393T	cSNP	0.01	0	1.299	0.563	0.12	0.12	0.155
EDN1	5370	chr6	12,296,255	K198N	cSNP	0.08	0.454	0.049	0.895	0.21	0.28	0.258
NRAP	868738	chr10	115,381,747	R884C	cSNP	0.01	0.986	4.833	1	0.24	0.17	0.198
Rare variant
CDX1	370852694	chr5	149,546,819	A127E	cSNP	0.87	0.458	1.235	0.996	.	.	0.027
DNAH17	78098467	chr17	76,510,974	A1332V	cSNP	0.6	.	4.052	1	0.01	0.04	0.037
ANKRD35	146839643	chr1	145,560,094	C194R	cSNP	0.01	1	3.419	1	0.0037	0.01	0.016

ISSN: 1471-2350