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
rs1042838	PGR	0.742	0.240	11	101062681	missense variant	C/A;G	snv	0.13; 4.0E-06		12
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
rs1157	ALCAM	0.790	0.080	3	105576617	3 prime UTR variant	G/A	snv		0.16	7
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4595552		0.790	0.080	11	125865825	intergenic variant	C/G;T	snv			7
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
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
rs2978974	JRK ; PSCA	0.790	0.200	8	142670446	non coding transcript exon variant	G/A	snv		0.38	7
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs1444424830	FASTK	0.790	0.080	7	151078923	missense variant	C/T	snv	4.6E-06	7.0E-06	7
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
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs779162432	PPIG	0.790	0.080	2	169637315	missense variant	A/G	snv	4.1E-06		7
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101