DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal Carcinoma ×

Variants associated to the Gene: SMAD7 ×

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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
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			16
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	11
rs4464148	SMAD7	0.827	0.120	18	48932662	intron variant	T/C	snv		0.25	7
rs7229639	SMAD7	0.763	0.080	18	48924606	intron variant	A/G	snv		0.87	5
rs2337107	SMAD7	0.882	0.120	18	48932953	intron variant	C/T	snv		0.52	3
rs3764482	SMAD7	1.000	0.080	18	48942576	non coding transcript exon variant	G/A	snv	0.14	0.13	3
rs11874392	SMAD7	0.763	0.080	18	48926786	intron variant	A/T	snv		0.50	2
rs16950113	SMAD7	1.000	0.080	18	48920219	3 prime UTR variant	T/C	snv		4.7E-02	1
rs58920878	SMAD7	1.000	0.080	18	48923195	intron variant	C/A;G;T	snv			1
rs7226855	SMAD7	0.790	0.080	18	48927678	intron variant	A/G;T	snv			1