DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, C0007097

Source: ALL

Results per page

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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913400	CTNNB1	0.683	0.360	3	41224610	missense variant	C/A;G;T	snv			26
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			19
rs121913480	FGFR3	1.000	0.120	4	1806604	missense variant	G/T	snv			2
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913484	FGFR3	0.851	0.240	4	1804365	missense variant	A/T	snv			5
rs121913485	FGFR3	0.716	0.400	4	1804372	missense variant	A/G	snv			18
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913671	MET	0.882	0.160	7	116783353	missense variant	G/A;C	snv			4
rs1245554802	CAMK1 ; OGG1	0.851	0.120	3	9765892	splice acceptor variant	T/C	snv	4.0E-06		5
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1383461329	KMT5A	1.000	0.120	12	123389469	missense variant	C/T	snv		1.4E-05	2
rs1400966919	FGFR4	0.925	0.240	5	177096737	missense variant	G/A	snv		1.4E-05	3
rs1418016570	PRKN			6	161973326	missense variant	G/C	snv	4.0E-06		1
rs1418810723	FN1	0.851	0.080	2	215409981	missense variant	A/T	snv	8.0E-06		9
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38