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
rs1042579	THBD	0.732	0.240	20	23048087	missense variant	G/A;T	snv	0.19		16
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121918027	PLG	0.827	0.320	6	160738593	missense variant	G/A	snv	1.4E-03	3.5E-04	7
rs121918095	TTR	0.827	0.160	18	31598602	missense variant	G/A	snv	7.9E-04	2.2E-04	6
rs12938	C1orf112 ; SELL	0.851	0.160	1	169691640	3 prime UTR variant	A/G	snv		0.27	5
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs14259	PSMD9	0.724	0.360	12	121915890	missense variant	A/C;G	snv	4.0E-06; 0.32		19
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800458	TTR	0.851	0.280	18	31592902	missense variant	G/A	snv	5.1E-02	5.2E-02	5
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1967309	ADCY9	0.925	0.080	16	4015582	non coding transcript exon variant	A/G	snv		0.51	3
rs2144151	ANGPT4			20	903001	intron variant	T/G	snv		0.40	1
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	19
rs267606743	COL4A1	1.000	0.160	13	110192222	missense variant	C/T	snv			5
rs28933981	TTR	0.807	0.200	18	31598647	missense variant	C/T	snv	1.5E-03	1.7E-03	8
rs313158				6	85334045	intergenic variant	A/T	snv		1.8E-02	1
rs34203073	AGGF1	1.000	0.040	5	77035624	missense variant	G/A	snv	1.0E-02	9.9E-03	2
rs387906853	SMAD3	0.925	0.040	15	67181297	stop gained	G/A;T	snv			3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131