Replication of GWAS Coding SNPs Implicates MMEL1 as a Potential Susceptibility Locus among Saudi Arabian Celiac Disease Patients

Table 1

Characteristics of nonsynonymous SNPs screened in celiac patients.

Gene symbol	Gene name	RS ID	Alleles	Minor allele frequency	cDNA location	Genomic location	Exon	Protein effect
IRAK1	Interleukin-1 receptor-associated kinase 1	rs1059702	A/G	0.37	c.587 A > G	X:154018741	5	Phe196Ser
SH2B3	SH2B adaptor protein 3	rs3184504	T/C	0.22	c.784 T > C	12:111446804	2	Trp262Arg
MMEL1	Membrane metalloendopeptidase-like 1	rs3748816	T/C	0.46	c.1553 T > C	1:2595307	16	Met518Thr