DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: SMAD3 ×

Results per page

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
rs56324967	SMAD3	0.776	0.080	15	67110486	intron variant	T/C	snv		0.52	10
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
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
rs17294280	SMAD3	0.882	0.120	15	67175947	intron variant	A/G	snv		0.19	4
rs2033784	SMAD3	1.000	0.080	15	67157322	intron variant	A/G	snv		0.35	3
rs56375023	SMAD3	0.925	0.120	15	67156025	intron variant	G/A	snv		0.17	3
rs10152595	SMAD3	1.000	0.080	15	67183150	intron variant	C/G;T	snv			2
rs34445740	SMAD3	0.925	0.080	15	67183426	intron variant	-/A	delins		0.29	2
rs12913547	SMAD3			15	67175169	intron variant	T/C;G	snv			2
rs17228058	SMAD3	1.000	0.040	15	67157967	intron variant	A/G	snv		0.17	2
rs28617673	SMAD3	1.000	0.080	15	67078906	intron variant	C/T	snv		0.16	1
rs744910	SMAD3	1.000	0.080	15	67154447	intron variant	G/A;T	snv			1
rs117683492	SMAD3	1.000	0.080	15	67121286	intron variant	G/A	snv		1.2E-02	1
rs2118611	SMAD3			15	67109128	intron variant	T/C	snv		0.23	1
rs4776879	SMAD3			15	67071982	intron variant	T/A;C	snv			1
rs17228212	SMAD3	0.807	0.160	15	67166301	intron variant	T/C	snv		0.21	1
rs72743481	SMAD3			15	67173209	intron variant	T/A;C	snv			1
rs11071939	SMAD3			15	67171053	intron variant	T/C	snv		6.1E-02	1
rs12901372	SMAD3	1.000	0.040	15	67078168	intron variant	C/A;G	snv			1
rs12901071	SMAD3	0.882	0.160	15	67078051	intron variant	A/G	snv		0.25	1
rs12912045	SMAD3			15	67174959	intron variant	C/T	snv		0.25	1
rs35251008	SMAD3			15	67176187	intron variant	A/C;G	snv			1