DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: SMAD6 ×

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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
rs12594720	SMAD6	0.776	0.080	15	66714680	intron variant	C/G	snv		0.23	10
rs4776316	SMAD6	0.790	0.080	15	66715475	intron variant	A/G	snv		0.26	9
rs6494597	SMAD6			15	66734964	intron variant	A/G	snv		0.54	1
rs1866745	SMAD6	1.000	0.080	15	66742474	intron variant	G/A	snv		0.41	1
rs8040232	SMAD6			15	66752605	intron variant	T/A;C	snv			1
rs1440374	SMAD6			15	66743724	intron variant	T/C	snv		0.20	1
rs2119260	SMAD6			15	66719608	intron variant	T/A;C;G	snv			1
rs1440372	SMAD6			15	66740813	non coding transcript exon variant	T/C	snv		0.78	1
rs3809570	SMAD6			15	66707779	non coding transcript exon variant	C/A;T	snv		0.22	1
rs76912608	SMAD6			15	66706519	non coding transcript exon variant	C/T	snv		0.24	1