DisGeNET - a database of gene-disease associations

List of associated variants

Gallbladder Carcinoma, C0235782

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
rs4595552		0.790	0.080	11	125865825	intergenic variant	C/G;T	snv			7
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs1157	ALCAM	0.790	0.080	3	105576617	3 prime UTR variant	G/A	snv		0.16	7
rs13959	ALDH1A1	0.790	0.080	9	72930966	synonymous variant	G/A	snv	0.48	0.42	7
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs4791171	AXIN2	0.763	0.080	17	65545379	intron variant	T/C	snv		0.55	11
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs743572	CYP17A1	0.672	0.360	10	102837395	5 prime UTR variant	A/G;T	snv	0.40; 8.1E-06		24
rs2486758	CYP17A1	0.742	0.160	10	102837723	upstream gene variant	T/C	snv		0.18	11
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1056836	CYP1B1	0.581	0.680	2	38071060	missense variant	G/C	snv		0.51	58
rs3808607	CYP7A1	0.716	0.400	8	58500365	upstream gene variant	G/T	snv		0.55	16
rs3824260	CYP7A1	0.742	0.160	8	58500631	upstream gene variant	A/G;T	snv			11
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs778985185	EGFR	0.851	0.160	7	55163734	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs1126497	EPCAM	0.716	0.200	2	47373967	missense variant	T/C	snv	0.51	0.58	14
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			9
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs1801132	ESR1	0.689	0.320	6	151944387	synonymous variant	G/C	snv	0.73	0.80	22
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		30
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs1444424830	FASTK	0.790	0.080	7	151078923	missense variant	C/T	snv	4.6E-06	7.0E-06	7