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
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs267606661	APOE	0.763	0.120	19	44909101	missense variant	C/G;T	snv	3.9E-04; 1.0E-05		10
rs121918393	APOE	0.851	0.120	19	44908756	missense variant	C/A;T	snv	1.3E-05; 9.0E-05		6
rs140808909	APOE	0.851	0.120	19	44909080	missense variant	G/A	snv	2.0E-04	5.6E-05	5
rs3782886	BRAP	0.724	0.480	12	111672685	synonymous variant	T/C	snv	1.9E-02	5.9E-03	22
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs5355	C1orf112 ; SELE	0.742	0.240	1	169726729	missense variant	G/A	snv	4.5E-02	3.3E-02	14
rs915014	C1orf167 ; MTHFR	0.925	0.040	1	11789412	missense variant	T/C	snv			2
rs17611	C5	0.732	0.480	9	121006922	missense variant	C/T	snv	0.47	0.36	14
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs353291	CARMN ; MIR145	0.807	0.200	5	149431183	non coding transcript exon variant	T/C	snv		0.35	6
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1020608562	CCR5AS ; CCR5	0.807	0.160	3	46373738	missense variant	T/C	snv	4.0E-06		9
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs1535045	CD40	0.742	0.360	20	46119460	intron variant	C/A;G;T	snv			12
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs17231520	CETP	0.851	0.240	16	56961915	upstream gene variant	G/A	snv		2.1E-02	9