NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.

Phenome-wide association (PheWAS) of n = 10,168 phenotypes revealed nominally significant association of p.Arg1231Cys with ischemic stroke (OR [95%CI] = 4.0 [1.9, 8.6]), p = 4.1 × 10 −4 ), all strokes combined (OR [95% CI] = 1.9 [1.1, 3.5], p = 0.031), hypertension (ICD 10 code I10) (OR [95% CI] = 1.5 [1.1, 2.2], p = 0.019), and recurrent major depression (OR [95% CI] = 3.2 [1.5, 6.8], p = 0.0031) (Supplementary Data 2 ).

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