DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs74535574	APC			5	112839879	stop gained	C/A;T	snv			1
rs121913289	PTEN	1.000	0.080	10	87958013	frameshift variant	A/-	delins			4
rs727502902	BRAF	0.882	0.080	7	140753338	inframe insertion	-/TAG	delins	4.0E-06		4
rs1057519724	PTEN	1.000	0.080	10	87933236	missense variant	G/A;T	snv			3
rs1057519739	SMAD4	1.000	0.080	18	51065518	missense variant	G/A;C	snv			1
rs138551214	EPHB2	0.925	0.080	1	22909025	missense variant	G/A	snv	4.0E-06	1.4E-05	1
rs1057519728	MAP2K1	0.851	0.120	15	66435103	missense variant	T/A;C;G	snv			5
rs1057519841	PIK3R1	0.925	0.120	5	68295269	missense variant	A/G	snv			5
rs1057519906	IDH2	0.882	0.120	15	90088607	missense variant	T/A;C	snv			5
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		5
rs1057519908	MAP2K1	0.882	0.120	15	66435105	missense variant	T/G	snv			4
rs121913332	APC	0.925	0.120	5	112839942	stop gained	C/G;T	snv	4.0E-06		4
rs121913333	APC	0.882	0.120	5	112838220	stop gained	C/A;T	snv			4
rs121913327	APC	0.925	0.120	5	112839606	stop gained	C/G;T	snv			3
rs121913471	MIR4728 ; ERBB2	0.807	0.120	17	39724747	missense variant	G/A;C;T	snv			3
rs281875324	SMAD4	1.000	0.120	18	51065456	missense variant	A/C;G	snv			3