DisGeNET - a database of gene-disease associations

List of associated variants

Angina Pectoris, C0002962

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
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs3742264	CPB2 ; CPB2-AS1	0.742	0.400	13	46073959	missense variant	C/T	snv	0.31	0.35	17
rs72653772	ABCC6	0.807	0.320	16	16190246	missense variant	C/T	snv	8.4E-05	1.1E-04	16
rs1611115	DBH	0.732	0.280	9	133635393	upstream gene variant	T/C	snv		0.80	16
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	14
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05		13
rs63750459	ABCC6	0.851	0.320	16	16163110	missense variant	G/A	snv	6.8E-05	6.3E-05	13
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		13
rs72653762	ABCC6	0.851	0.240	16	16202006	missense variant	T/C	snv	5.6E-03	4.7E-03	13
rs63751241	ABCC6	0.882	0.280	16	16154638	missense variant	C/T	snv	4.0E-05	1.4E-05	12
rs72650699	ABCC6	0.851	0.280	16	16202045	stop gained	G/A	snv	4.8E-05	1.8E-04	12
rs72650700	ABCC6	0.827	0.240	16	16190247	stop gained	G/A;T	snv	4.4E-05; 4.0E-06		12
rs72664209	ABCC6	0.827	0.240	16	16173283	splice donor variant	C/A	snv	8.0E-06; 1.2E-04	1.7E-04	12
rs281432	ICAM1	0.851	0.280	19	10279982	intron variant	C/G	snv		0.52	12
rs60791294	ABCC6	0.882	0.280	16	16163086	missense variant	C/G;T	snv	7.6E-05		11
rs63749856	ABCC6	0.851	0.200	16	16155010	missense variant	C/T	snv	4.8E-05	2.8E-05	11
rs63750759	ABCC6	0.851	0.280	16	16154974	missense variant	G/A;T	snv	1.9E-04; 5.4E-06		11
rs10911021	LOC105371642 ; LINC01344	0.807	0.160	1	182112825	intron variant	C/T	snv		0.36	11
rs66492417	ABCC6	0.882	0.240	16	16178909	stop gained	G/T	snv			10
rs66864704	ABCC6	0.882	0.280	16	16188907	missense variant	A/G	snv	1.2E-04	3.6E-04	10
rs72664233	ABCC6	0.882	0.200	16	16157770	frameshift variant	A/-	del	8.4E-05	4.9E-05	10
rs63749796	ABCC6	0.925	0.200	16	16159505	missense variant	C/G	snv			9