eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

Table 1 Proof of concept null variants. Note that ICD-9 codes are not shown for all traits because there is not a known association with an ICD-9 code for all traits

SNP	Gene	^aTrait Previously Associated
rs328	LPL	Pure hyperglyceridemia (ICD9 272.1) [14]
rs2814778	DARC	White Blood Cell count [47]
rs1815739	ACTN3	Dystrophinopathy [48], type 2 diabetes [49]
rs16910526	CLEC7A	Inflammatory bowel disease [50], candidiasis [51], aspergillosis [52]
rs601338	FUT2	Gastroenteritis [53], Crohn’s disease [53]

^aICD-9 codes are not shown for all traits because there is not a known association with an ICD-9 code based definition of the condition

ISSN: 1755-8794