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
rs1057519754	AKT2			19	40236313	missense variant	T/C	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
rs74535574	APC			5	112839879	stop gained	C/A;T	snv			1
rs869312784	APC			5	112838674	missense variant	A/G	snv			1
rs1057519760	EGFR			7	55160314	missense variant	A/G	snv			1
rs587780424	PPARG			3	12433975	missense variant	A/C	snv			1
rs1414521156	SLCO6A1			5	102459731	missense variant	T/A;C	snv	4.0E-06; 4.0E-06		1
rs1057519740	SMAD4			18	51065532	missense variant	C/A	snv			1
rs1057519741	SMAD4			18	51078417	missense variant	G/T	snv			1
rs770292690	TCHP			12	109908872	missense variant	C/T	snv	5.6E-05	9.8E-05	1
rs863225349	APC	1.000	0.120	5	112839531	missense variant	A/G	snv			2
rs1554774973	NTRK2	1.000	0.120	9	84955504	missense variant	C/T	snv			2
rs1057519699	PIK3CA			3	179218315	missense variant	G/A	snv			2
rs1057519739	SMAD4	1.000	0.080	18	51065518	missense variant	G/A;C	snv			2
rs121913327	APC	0.925	0.120	5	112839606	stop gained	C/G;T	snv			3
rs370662884	CTNNB1	0.925	0.080	3	41225816	synonymous variant	G/A	snv	3.2E-05	4.9E-05	3
rs1057519724	PTEN	1.000	0.080	10	87933236	missense variant	G/A;T	snv			3
rs281875324	SMAD4	1.000	0.120	18	51065456	missense variant	A/C;G	snv			3
rs727502902	BRAF	0.882	0.080	7	140753338	inframe insertion	-/TAG	delins	4.0E-06		4
rs138551214	EPHB2	0.925	0.080	1	22909025	missense variant	G/A	snv	4.0E-06	1.4E-05	4
rs121913236	KRAS	0.882	0.160	12	25245321	missense variant	G/C;T	snv			4
rs1057519908	MAP2K1	0.882	0.120	15	66435105	missense variant	T/G	snv			4