DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Coronary Artery Disease ×

Variants associated to the Gene: SMG6 ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs216172	SMG6	0.925	0.040	17	2223210	intron variant	G/C	snv		0.35	2
rs2281727	SMG6	0.882	0.080	17	2214651	intron variant	A/G	snv		0.38	2
rs7209460	SMG6	1.000	0.040	17	2145419	intron variant	C/G;T	snv			2
rs113348108	SMG6	1.000	0.040	17	2185555	intron variant	GACA/-	delins		0.37	1
rs170041	SMG6	1.000	0.040	17	2266922	intron variant	C/G;T	snv		0.24	1
rs62068034	SMG6	1.000	0.040	17	2129018	intron variant	A/T	snv		1.3E-02	1