DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Coronary Artery Disease ×

Variants associated to the Gene: ABCA1 ×

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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
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	11
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	10
rs4149313	ABCA1	0.763	0.240	9	104824472	missense variant	T/C	snv			9
rs146292819	ABCA1	0.790	0.240	9	104794495	missense variant	T/G	snv	2.9E-04	3.8E-04	8
rs2066715	ABCA1	0.807	0.160	9	104825752	missense variant	C/T	snv	8.2E-02	5.5E-02	7
rs532997003	ABCA1	0.882	0.040	9	104840464	missense variant	T/C	snv	2.0E-05		3
rs2472386	ABCA1	1.000	0.040	9	104839260	intron variant	G/A	snv		0.47	2
rs4149339	ABCA1	1.000	0.040	9	104782875	3 prime UTR variant	G/A	snv		0.32	2
rs4743763	ABCA1	1.000	0.040	9	104830901	intron variant	A/C;T	snv	0.36		2