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
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
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	1
rs74535574	APC			5	112839879	stop gained	C/A;T	snv			1
rs1057519760	EGFR			7	55160314	missense variant	A/G	snv			1
rs138551214	EPHB2	0.925	0.080	1	22909025	missense variant	G/A	snv	4.0E-06	1.4E-05	1
rs121913236	KRAS	0.882	0.160	12	25245321	missense variant	G/C;T	snv			1
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	1
rs1554774973	NTRK2	1.000	0.120	9	84955504	missense variant	C/T	snv			1
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	1
rs1057519739	SMAD4	1.000	0.080	18	51065518	missense variant	G/A;C	snv			1
rs1057519740	SMAD4			18	51065532	missense variant	C/A	snv			1
rs1057519741	SMAD4			18	51078417	missense variant	G/T	snv			1
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			1
rs2735940	TERT	0.689	0.400	5	1296371	upstream gene variant	A/G	snv		0.49	1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1057519725	KRAS	0.851	0.320	12	25225627	missense variant	G/A	snv		7.0E-06	2
rs121913527	KRAS	0.807	0.320	12	25225628	missense variant	C/A;G;T	snv			2
rs1057519699	PIK3CA			3	179218315	missense variant	G/A	snv			2
rs121913277	PIK3CA	0.925	0.280	3	179234302	missense variant	G/A;C	snv			2
rs121913327	APC	0.925	0.120	5	112839606	stop gained	C/G;T	snv			3
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			3