DisGeNET - a database of gene-disease associations

Source: BEFREE

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
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		54
rs2231137	ABCG2	0.752	0.400	4	88139962	missense variant	C/T	snv	0.11	7.4E-02	12
rs1305398818	ABCG2	0.925	0.080	4	88131886	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		4
rs199976573	ABCG2	0.925	0.120	4	88132618	missense variant	C/T	snv	6.4E-05	5.6E-05	4
rs2622621	ABCG2	0.851	0.240	4	88109768	intron variant	C/A;G	snv			3
rs3114020	ABCG2	0.882	0.200	4	88162514	intron variant	T/C	snv		0.40	2
rs1185675198	ABCG2	0.925	0.080	4	88121789	missense variant	C/T	snv			2
rs2199936	ABCG2	0.882	0.160	4	88124179	intron variant	A/G;T	snv		0.88	2
rs2725264	ABCG2	1.000	0.080	4	88104957	intron variant	C/T	snv		0.70	1
rs4148149	ABCG2	1.000	0.080	4	88141133	intron variant	T/G	snv		0.42	1
rs1481012	ABCG2	0.882	0.200	4	88117930	intron variant	A/G	snv		8.9E-02	1
rs4148152	ABCG2	1.000	0.040	4	88139757	intron variant	T/C	snv	0.11	7.1E-02	1
rs761675397	ABCG2	1.000	0.040	4	88114965	missense variant	T/C	snv	2.8E-05	2.8E-05	1
rs6857600	ABCG2	0.925	0.120	4	88144923	intron variant	C/T	snv		0.28	1
rs10011796	ABCG2	0.882	0.160	4	88169725	intron variant	T/C;G	snv			1
rs757254775	ABCG2	1.000	0.080	4	88101293	missense variant	G/T	snv	4.0E-06		1
rs72552713	ABCG2	0.925	0.040	4	88131805	stop gained	G/A	snv	4.0E-04	1.2E-04	1
rs2054576	ABCG2	0.882	0.160	4	88107623	intron variant	A/G	snv		7.8E-02	1