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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs1805010	IL4R	0.752	0.400	16	27344882	missense variant	A/C;G;T	snv	0.45		12
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs5030824	VHL	0.776	0.320	3	10149885	missense variant	C/G	snv	2.0E-05	4.2E-05	9
rs121913243	MET	0.827	0.160	7	116777410	missense variant	A/C;G	snv	1.2E-05		7
rs121913246	MET	0.827	0.200	7	116783360	missense variant	A/G	snv			7
rs1049380	ITPR2	0.827	0.120	12	26336611	3 prime UTR variant	G/T	snv		0.69	5
rs7105934	LOC102724265	0.827	0.120	11	69424973	upstream gene variant	G/A;C	snv			5
rs121913245	MET	0.925	0.120	7	116783420	missense variant	T/C	snv			3
rs121913244	MET	0.925	0.120	7	116777409	missense variant	C/T	snv			2
rs1057519779	MTOR	0.925	0.200	1	11157242	missense variant	A/G	snv			2
rs1057519777	MTOR	1.000	0.120	1	11109304	missense variant	C/G;T	snv			1
rs1057519778	MTOR	1.000	0.120	1	11122122	missense variant	G/T	snv			1