DisGeNET - a database of gene-disease associations

List of associated variants

Stage IIB Gallbladder Cancer AJCC v8, C4525301

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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
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
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		31
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		30
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs3824260	CYP7A1	0.742	0.160	8	58500631	upstream gene variant	A/G;T	snv			11
rs6557634	TNFRSF10A	0.763	0.080	8	23202743	missense variant	T/C	snv			11
rs2303426	MSH2	0.790	0.080	2	47403411	intron variant	C/A;G;T	snv	1.9E-05; 0.47		8
rs4595552		0.790	0.080	11	125865825	intergenic variant	C/G;T	snv			7
rs775066324	TIMP2	0.790	0.080	17	78855710	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		7
rs779162432	PPIG	0.790	0.080	2	169637315	missense variant	A/G	snv	4.1E-06		7
rs909629195	LASP1 ; MIR6779	0.790	0.080	17	38914448	missense variant	C/T	snv			7
rs951540403	PLCE1	0.790	0.080	10	94132433	missense variant	G/C	snv			7
rs1444424830	FASTK	0.790	0.080	7	151078923	missense variant	C/T	snv	4.6E-06	7.0E-06	7
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38