DisGeNET - a database of gene-disease associations

List of associated variants

Gallbladder Carcinoma, C0235782

Source: CLINVAR ×

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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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06		23
rs876660821	TP53	0.689	0.400	17	7675075	missense variant	A/C;G;T	snv			21
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		19
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			8
rs1057519738	MIR4728 ; ERBB2	0.790	0.160	17	39725079	missense variant	G/A	snv	4.0E-06		7
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			4
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		1
rs2234767	FAS ; ACTA2	0.649	0.280	10	88989499	intron variant	G/A;T	snv	0.15		1
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	1
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1