DisGeNET - a database of gene-disease associations

List of associated variants

Biliary Tract Cancer, C0750952

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
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
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs3197999	MST1 ; APEH	0.732	0.280	3	49684099	missense variant	G/A	snv	0.26	0.27	16
rs587777005	LGR4	0.925	0.120	11	27391119	stop gained	G/A	snv		1.4E-05	4
rs3805246	GAB1	0.882	0.120	4	143382955	intron variant	G/A	snv		0.31	3
rs2017000	EGFR	1.000	0.080	7	55174916	intron variant	A/G	snv		0.24	1