DisGeNET - a database of gene-disease associations

List of associated variants

Cholesterol gallstones, C0856727

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
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
rs2230028	ABCB4	0.827	0.080	7	87426860	missense variant	T/C;G	snv	1.0E-01		5
rs1382897404	ABCB11	0.851	0.040	2	169018071	missense variant	C/G	snv		7.0E-06	4
rs58238559	ABCB4	0.882	0.120	7	87452957	missense variant	T/C	snv	1.1E-02	9.2E-03	3
rs767587977	APOB	0.882	0.120	2	21002962	stop gained	C/A;T	snv	8.2E-06		3
rs1478060232	ABCB11	0.925	0.040	2	168969407	missense variant	T/C	snv			2
rs747471233	ABCB11	0.925	0.040	2	169018074	missense variant	C/G	snv	4.0E-06		2
rs769652427	ABCB11	0.925	0.040	2	168971917	missense variant	G/C	snv	1.2E-05		2
rs1205128669	ABCG8	0.925	0.040	2	43877848	missense variant	G/A;C	snv	4.0E-06		2
rs755130225	ABCG8	0.925	0.040	2	43877845	missense variant	G/A	snv	8.0E-06		2