DisGeNET - a database of gene-disease associations

List of associated variants

Coronary Artery Disease, C1956346

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1275805226	AGT	0.776	0.240	1	230706148	frameshift variant	G/-	del		7.0E-06	12
rs3834458	FADS1 ; FADS2	0.807	0.200	11	61827449	intron variant	T/-	del		0.28	7
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins			25
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins			18
rs869109213	NOS3	0.790	0.200	7	150997269	intron variant	GGGGGTGAGGAAGTCTAGACCTGCTGCG/A	delins			10
rs528732638	CHST9 ; AQP4-AS1	0.851	0.120	18	26940224	intron variant	A/-;AA;AAA;AAAA	delins			5
rs3045215	IRF2BP2	0.882	0.040	1	234605171	3 prime UTR variant	-/GTTACAATA;GTTATAATA	delins			3
rs34091558	LMOD1	1.000	0.040	1	201917642	intron variant	A/-	delins		0.25	2
rs61722009	NOS3	0.925	0.120	7	150997170	intron variant	AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC	delins			2
rs113348108	SMG6	1.000	0.040	17	2185555	intron variant	GACA/-	delins		0.37	1
rs139016349	MRAS	1.000	0.040	3	138380319	intron variant	-/CTT	delins		0.21	1
rs3217713	NFKBIZ	1.000	0.040	3	101857185	splice region variant	-/TTCTAGAAAGCTTTAATAACCAC;TTTTAGAAAGCTTTAATAACCAC;TTTTTAGAAAGCTTTAATAACCAC	delins		0.81	1
rs72555377	PCSK9	1.000	0.040	1	55039880	inframe insertion	GCTGCTGCT/-;GCT;GCTGCT;GCTGCTGCTGCT;GCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCTGCT;GCTGCTGCTGCTGCTGCTGCTGCT	delins			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237