DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Uric acid measurement (procedure) ×

Variants associated to the Gene: ABCG2 ×

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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
rs1481012	ABCG2	0.882	0.200	4	88117930	intron variant	A/G	snv		8.9E-02	5
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		5
rs4148155	ABCG2	0.882	0.200	4	88133515	intron variant	A/G	snv		8.7E-02	5
rs10011796	ABCG2	0.882	0.160	4	88169725	intron variant	T/C;G	snv			3
rs2199936	ABCG2	0.882	0.160	4	88124179	intron variant	A/G;T	snv		0.88	3
rs2725271	ABCG2	0.925	0.120	4	88170035	intron variant	C/G;T	snv			3
rs75544042	ABCG2	0.925	0.120	4	88124179	intron variant	A/G;T	snv			3
rs199897813	ABCG2	1.000	0.040	4	88094576	splice donor variant	C/A;T	snv	5.2E-05		2
rs2622629	ABCG2	0.882	0.160	4	88172912	intron variant	T/C	snv		0.28	2
rs3114018	ABCG2	0.882	0.160	4	88143429	intron variant	A/C	snv		0.48	2
rs3114020	ABCG2	0.882	0.200	4	88162514	intron variant	T/C	snv		0.40	2
rs1481017	ABCG2	0.882	0.160	4	88176325	intron variant	C/T	snv		0.59	1
rs2054576	ABCG2	0.882	0.160	4	88107623	intron variant	A/G	snv		7.8E-02	1
rs2622608	ABCG2	0.925	0.120	4	88165592	intron variant	A/G;T	snv		0.39	1
rs4148152	ABCG2	1.000	0.040	4	88139757	intron variant	T/C	snv	0.11	7.1E-02	1
rs55930652	ABCG2			4	88174538	intron variant	G/A	snv		0.21	1
rs74904971	ABCG2			4	88128874	intron variant	C/A	snv		8.9E-02	1