DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of gallbladder, C0153452

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
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs1126497	EPCAM	0.716	0.200	2	47373967	missense variant	T/C	snv	0.51	0.58	14
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
rs2303426	MSH2	0.790	0.080	2	47403411	intron variant	C/A;G;T	snv	1.9E-05; 0.47		8
rs779162432	PPIG	0.790	0.080	2	169637315	missense variant	A/G	snv	4.1E-06		7
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
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
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs2072668	OGG1	0.732	0.280	3	9756456	intron variant	C/G	snv	0.28	0.24	14
rs1157	ALCAM	0.790	0.080	3	105576617	3 prime UTR variant	G/A	snv		0.16	7
rs975334	CNTN4	0.925	0.080	3	2804632	intron variant	G/A	snv		0.50	2
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs1800855	CCKAR	0.925	0.120	4	26489495	intron variant	A/G;T	snv	0.27		2
rs2071011	CCKAR	1.000	0.080	4	26489811	intron variant	C/G;T	snv			1
rs3822222	CCKAR	1.000	0.080	4	26489030	intron variant	G/A	snv		0.14	1