Jeff Spence @jeffspence.github.io · Nov 7 NPR2 is the second most significant gene in the burden tests, but is in only the 243rd most significant GWAS locus. Homozygous LoFs in NPR2 cause severe short stature, but don’t affect intelligence, facial features, etc… seems like NPR2 is height specific! 13/n
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In contrast, HHIP (hedgehog interacting protein) has tons of GWAS hits near it, and basically no burden signal. HHIP makes sense as a height hit, but it’s also been implicated in COPD, pituitary hormone deficiency, etc… It’s NOT height specific! 14/n