DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Ankylosing spondylitis ×

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
rs72743477	SMAD3	0.724	0.240	15	67171953	intron variant	A/G	snv		0.17	14
rs17293632	SMAD3	0.763	0.240	15	67150258	intron variant	C/T	snv		0.17	8
rs35874463	SMAD3	0.827	0.120	15	67165360	missense variant	A/G	snv	4.0E-02	3.4E-02	7