DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Coronary Artery Disease ×

Variants associated to the Gene: SMAD3 ×

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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
rs17293632	SMAD3	0.763	0.240	15	67150258	intron variant	C/T	snv		0.17	8
rs56062135	SMAD3	0.790	0.200	15	67163292	intron variant	C/T	snv		0.18	6
rs72743461	SMAD3	0.827	0.160	15	67149412	intron variant	C/A;T	snv			6
rs17228058	SMAD3	1.000	0.040	15	67157967	intron variant	A/G	snv		0.17	2
rs17228212	SMAD3	0.807	0.160	15	67166301	intron variant	T/C	snv		0.21	1