DisGeNET - a database of gene-disease associations

List of associated variants

Aortic Aneurysm, Abdominal, C0162871

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 GENOME	Num. diseases
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv	0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv	0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv	0.69	108
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv	0.69	78
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv	0.28	63
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv	0.41	60
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv	0.14	54
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins	0.50	48
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv	0.30	46
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv	0.40	44
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv		27
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins	2.8E-04	26
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv	0.31	26
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins		25
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv	0.41	22
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv	0.64	22
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv	9.2E-02	18
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv		17
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv		16
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv	0.12	15
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv	0.68	13
rs12916	HMGCR ; CERT1	0.807	0.240	5	75360714	3 prime UTR variant	T/C;G	snv	0.37	12
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv	0.63	10
rs1466535	LRP1	0.790	0.160	12	57140687	intron variant	G/A;C	snv		9
rs2070584	TIMP1 ; MIR4769 ; SYN1	0.790	0.200	X	47587120	intron variant	T/G	snv	0.44	8