DisGeNET - a database of gene-disease associations

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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			25
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	18
rs7229639	SMAD7	0.763	0.080	18	48924606	intron variant	A/G	snv		0.87	13
rs11874392	SMAD7	0.763	0.080	18	48926786	intron variant	A/T	snv		0.50	11
rs4939567	SMAD7	0.790	0.080	18	48925503	intron variant	G/A	snv		0.47	9
rs6507874	SMAD7	0.790	0.080	18	48922435	intron variant	T/C	snv		0.54	9
rs7226855	SMAD7	0.790	0.080	18	48927678	intron variant	A/G;T	snv			9
rs4464148	SMAD7	0.827	0.120	18	48932662	intron variant	T/C	snv		0.25	7
rs2337106	SMAD7			18	48934533	intron variant	C/A;G	snv			4
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
rs12956924	SMAD7	0.925	0.080	18	48924776	intron variant	G/A	snv		0.29	2
rs2878889	SMAD7			18	48936766	intron variant	A/C;G;T	snv			2
rs9946510	SMAD7			18	48931857	intron variant	A/C	snv		0.25	2
rs16950113	SMAD7	1.000	0.080	18	48920219	3 prime UTR variant	T/C	snv		4.7E-02	1
rs3809922	SMAD7	1.000	0.040	18	48921759	synonymous variant	G/A;C;T	snv	3.5E-02; 4.4E-05; 3.6E-05		1
rs3809923	SMAD7	1.000	0.040	18	48921447	synonymous variant	G/C	snv	3.5E-02	1.2E-02	1
rs57633475	SMAD7			18	48943280	intron variant	A/G	snv		0.12	1
rs58920878	SMAD7	1.000	0.080	18	48923195	intron variant	C/A;G;T	snv			1
rs751275028	SMAD7	1.000	0.080	18	48921904	missense variant	T/C	snv		1.4E-05	1
rs9953366	SMAD7	1.000	0.080	18	48947822	intron variant	T/A;C	snv		0.72	1