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
rs1057519699	PIK3CA			3	179218315	missense variant	G/A	snv			2
rs1057519740	SMAD4			18	51065532	missense variant	C/A	snv			1
rs1057519741	SMAD4			18	51078417	missense variant	G/T	snv			1
rs1057519754	AKT2			19	40236313	missense variant	T/C	snv			1
rs1057519760	EGFR			7	55160314	missense variant	A/G	snv			1
rs121913326	APC			5	112839729	stop gained	G/T	snv			1
rs121913328	APC			5	112839693	stop gained	C/T	snv			1
rs121913329	APC			5	112839726	stop gained	C/T	snv			1
rs121913462	APC			5	112839510	stop gained	G/A;T	snv			1
rs1414521156	SLCO6A1			5	102459731	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		1
rs587780424	PPARG			3	12433975	missense variant	A/C	snv			1
rs74535574	APC			5	112839879	stop gained	C/A;T	snv			1
rs770292690	TCHP			12	109908872	missense variant	C/T	snv	5.6E-05	9.8E-05	1
rs869312784	APC			5	112838674	missense variant	A/G	snv			1
rs11727676	HHIP	0.776	0.080	4	144737912	synonymous variant	T/C	snv	6.6E-02	6.4E-02	14
rs2070699	EDN1	0.752	0.080	6	12292539	intron variant	G/C;T	snv	0.45		14
rs4925386	LAMA5	0.776	0.080	20	62345988	intron variant	T/C	snv		0.56	14
rs12916300	HERC2	0.742	0.080	15	28165345	intron variant	C/T	snv		0.50	13
rs58658771		0.776	0.080	15	32709533	intergenic variant	T/A	snv		0.20	13
rs7229639	SMAD7	0.763	0.080	18	48924606	intron variant	A/G	snv		0.87	13
rs10821907		0.776	0.080	10	50888694	upstream gene variant	C/T	snv		0.20	12
rs4360494	SF3A3	0.776	0.080	1	37990219	upstream gene variant	G/C	snv		0.45	12
rs6058093	PIGU	0.776	0.080	20	34625392	intron variant	A/C	snv		0.55	12
rs6584283	LINC01475	0.776	0.080	10	99530544	intron variant	T/C	snv		0.56	12
rs6691170		0.776	0.080	1	221872104	intergenic variant	G/T	snv		0.34	12