DisGeNET - a database of gene-disease associations

List of associated variants

Carcinogenesis, C0596263

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
rs1267580705	EPAS1	0.925	0.240	2	46360680	missense variant	G/A	snv			4
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4
rs765189442	ABCB11	0.925	0.080	2	168995422	missense variant	T/C	snv	8.1E-06		4
rs200817352	PAX8 ; PAX8-AS1	1.000	0.080	2	113220126	missense variant	G/A;C	snv	2.0E-03; 4.0E-06		2
rs57408770	MIR3131 ; IHH	1.000	0.080	2	219058688	non coding transcript exon variant	-/AAG	delins			2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
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
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs5743836	TLR9	0.658	0.440	3	52226766	intron variant	A/G	snv		0.20	31
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs1057519865	FOXL2NB ; FOXL2	0.742	0.240	3	138946321	missense variant	G/C	snv			15
rs2072668	OGG1	0.732	0.280	3	9756456	intron variant	C/G	snv	0.28	0.24	14
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06		8
rs35592567	TP63	0.827	0.160	3	189896847	3 prime UTR variant	C/G;T	snv			6
rs1259653415	TFRC	1.000	0.080	3	196071416	missense variant	T/C	snv		7.0E-06	3
rs113561019	OGG1	1.000	0.080	3	9756791	missense variant	G/A;T	snv	3.9E-03; 4.0E-06		2