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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

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

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]
  1. 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
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BMC Medical Genomics

ISSN: 1755-8794

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