DisGeNET - a database of gene-disease associations

List of associated variants

Cholestasis of pregnancy, C0268318

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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
rs72549398	ABCB11	0.790	0.240	2	168932442	missense variant	G/A	snv	1.2E-05	7.0E-06	8
rs8187710	ABCC2	0.827	0.200	10	99851537	missense variant	G/A	snv	5.3E-02	8.5E-02	6
rs11568372	ABCB11	0.827	0.240	2	168990819	missense variant	T/C	snv	2.5E-04	1.1E-04	5
rs2230028	ABCB4	0.827	0.080	7	87426860	missense variant	T/C;G	snv	1.0E-01		5
rs375315619	ABCB4	0.851	0.080	7	87440230	missense variant	T/C	snv	2.0E-04	9.8E-05	4
rs473351	ABCB11	0.925	0.120	2	168923386	3 prime UTR variant	T/A;C;G	snv			3
rs45575636	ABCB4	0.882	0.080	7	87431528	missense variant	C/G;T	snv	4.0E-06; 4.5E-03		3
rs34719006	ATP8B1	0.882	0.080	18	57706561	missense variant	C/A;T	snv	1.2E-05; 3.2E-03		3
rs12721613	NR1I2	1.000	0.080	3	119807329	missense variant	C/T	snv	9.8E-03	3.8E-02	3
rs72549402	ABCB11	0.925	0.080	2	168972040	missense variant	T/C	snv	2.0E-05	1.4E-05	2
rs72551307	ABCB11	0.925	0.080	2	168995403	missense variant	T/C	snv			2
rs886043807	ABCB11	0.925	0.080	2	168970146	missense variant	C/T	snv	4.0E-06	2.8E-05	2
rs17222723	ABCC2	0.925	0.080	10	99836239	missense variant	T/A	snv	4.5E-02	5.5E-02	2
rs121909103	ATP8B1 ; LOC100505549	0.925	0.080	18	57661282	missense variant	G/A	snv	4.0E-06		2
rs2461823	NR1I2	0.925	0.080	3	119801278	intron variant	T/A;C;G	snv			2
rs11568367	ABCB11	1.000	0.080	2	168970082	missense variant	T/C	snv	1.4E-02	2.9E-03	1
rs853782	ABCB11	1.000	0.080	2	168949788	intron variant	C/T	snv		0.55	1
rs1202283	ABCB4	1.000	0.080	7	87452976	synonymous variant	G/A	snv	0.48	0.41	1
rs2002042	ABCC2	1.000	0.080	10	99828174	intron variant	C/T	snv		0.27	1
rs61755050	NR1H4	1.000	0.080	12	100532530	missense variant	T/C	snv	3.8E-03	3.7E-03	1
rs749979628	NR1I2	1.000	0.080	3	119810180	missense variant	G/A;C;T	snv	4.3E-06; 4.3E-06; 4.3E-06		1