Table. 1.

Clinical impact of R169Q in the UK Biobank and Finngen

	Phenotype	UKB (Gene bass) OR	UKB (Gene bass) p-value	UKB (AZPhewas) OR	UKB (AZPhewas) p-value	Finngen OR	Finngen p-value
Neurological	Ischemic stroke	1.5	0.4
	Stroke not specified as hemorrhage or infarction	1.5	0.3
	Sequelae of cerebrovascular disease	5.8	0.02
	Headaches	1.4	0.5
	Vertigo	15.2	0.04
	Dizziness and giddiness			23.3	0.0013
	Vascular dementia	2.2	0,5			4.3	0.002
Cutaneous vasculopathy	Livedoid vasculitis					7.4	0.01
	Other and unspecified vasculitis limited to skin	0.4	0,6			5.2	0.01
	Raynaud phenomenon/disease	3.3	0.4
Immunological/hematological	Selective deficiency of immunoglobulin A					6.8	0.005
	Immunodeficiency with predominantly antibody defects	0.4	0.6			3.6	0.03
Other cutaneous	Cicatrical alopecia	0.4	0.7			13.1	0.02
	Other and unspecified cicatricial alopecia					8.7	0.01
Bone marrow	Other primary thrombocytopenia					5.5	0.02
	Idiopathic thrombocytopenic purpura			75.40	0.008
Gastrointestinal	Intestinal malabsorption	1.09	0.9			2.96	0.0003
	Ulcerative colitis	3.39	0.02	26.519	0.0062
Infections	Infective/viral hepatitis	8.6	0.03
	Viral warts	0.6	0.04			0.9	0.8
	Cytomegaloviral disease	0.4	0.7			0.3	0.6
Malignancies	Hodgkin lymphoma/Hodgkin disease	4.4	0.3
	Myeloid leukemia	18.2	0.03
Other	Liver/biliary/pancre as problem	14.7	0.003
	Chronic liver hepatitis	23.8	0.02
	Joint disorder unspecified			88.47	0.005
	Hypertrophic cardiomyopathy			110.30	0.0001

OR: Odds ratio.