DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, C0007097

Source: ALL

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs121434265	LOC101929160 ; CDC73	0.925	0.080	1	193125142	stop gained	C/G	snv			3
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs1418810723	FN1	0.851	0.080	2	215409981	missense variant	A/T	snv	8.0E-06		9
rs267607911	MSH2	0.851	0.200	2	47403192	start lost	A/C;G;T	snv	5.1E-05; 1.4E-05		8
rs768824654	MSH2	1.000	0.120	2	47403390	start lost	A/G	snv		7.0E-06	6
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
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
rs577715207	TP63	0.827	0.160	3	189886413	missense variant	T/A;C	snv	4.0E-06; 4.0E-06	7.0E-06	8
rs587778967	EPM2AIP1 ; MLH1	0.925	0.200	3	36993548	start lost	A/C;G	snv			8
rs1245554802	CAMK1 ; OGG1	0.851	0.120	3	9765892	splice acceptor variant	T/C	snv	4.0E-06		5
rs771306418	CAMK1 ; OGG1	0.851	0.120	3	9765885	splice acceptor variant	-/C	delins			5
rs773647920	MLH1	1.000	0.120	3	37001037	start lost	A/G	snv	2.4E-04	3.5E-05	5