DisGeNET - a database of gene-disease associations

List of associated variants

Arteriosclerosis, C0003850

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
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs3732378	CX3CR1	0.620	0.720	3	39265671	missense variant	G/A	snv	0.14	0.12	48
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36