DisGeNET - a database of gene-disease associations

List of associated variants

Vascular Diseases, C0042373

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
rs749437638	ARVCF ; COMT	0.752	0.240	22	19968597	missense variant	C/T	snv	2.4E-05	1.4E-05	14
rs1042579	THBD	0.732	0.240	20	23048087	missense variant	G/A;T	snv	0.19		16
rs2144151	ANGPT4			20	903001	intron variant	T/G	snv		0.40	1
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs28933981	TTR	0.807	0.200	18	31598647	missense variant	C/T	snv	1.5E-03	1.7E-03	8
rs121918095	TTR	0.827	0.160	18	31598602	missense variant	G/A	snv	7.9E-04	2.2E-04	6
rs1800458	TTR	0.851	0.280	18	31592902	missense variant	G/A	snv	5.1E-02	5.2E-02	5
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	19
rs1967309	ADCY9	0.925	0.080	16	4015582	non coding transcript exon variant	A/G	snv		0.51	3
rs387906853	SMAD3	0.925	0.040	15	67181297	stop gained	G/A;T	snv			3
rs267606743	COL4A1	1.000	0.160	13	110192222	missense variant	C/T	snv			5
rs14259	PSMD9	0.724	0.360	12	121915890	missense variant	A/C;G	snv	4.0E-06; 0.32		19
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins			18
rs759985000	BDNF			11	27700987	5 prime UTR variant	G/A;C	snv	4.2E-06; 8.4E-06		2
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs579459		0.752	0.320	9	133278724	upstream gene variant	C/T	snv		0.81	28
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs763000109	TNF	0.827	0.240	6	31575788	missense variant	C/G;T	snv	4.1E-06; 1.6E-05		9
rs121918027	PLG	0.827	0.320	6	160738593	missense variant	G/A	snv	1.4E-03	3.5E-04	7