DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipoproteinemia Type IIa, C0745103

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
rs17321515		0.776	0.200	8	125474167	intron variant	A/G	snv		0.49	16
rs515135		0.807	0.160	2	21063185	intergenic variant	T/C	snv		0.73	9
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs200353509	APOB	0.882	0.120	2	21035701	missense variant	G/A;C;T	snv	4.0E-06; 6.0E-05		4
rs1226992086	APOB	0.925	0.080	2	21041055	missense variant	C/G;T	snv	4.0E-06		2
rs12720762	APOB	0.925	0.080	2	21043787	intron variant	C/G	snv		4.8E-03	2
rs151009667	APOB	0.925	0.080	2	21011802	missense variant	C/T	snv	1.3E-03	1.4E-03	2
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs11542041	APOE	0.677	0.480	19	44908690	missense variant	C/A;T	snv		2.1E-05	23
rs769455	APOE	0.827	0.120	19	44908783	missense variant	C/T	snv	1.4E-03	6.9E-03	8
rs267606664	APOE	0.851	0.120	19	44908730	missense variant	G/A;C	snv	1.6E-04; 6.3E-06		5
rs769452	APOE	0.925	0.160	19	44907853	missense variant	T/C	snv	2.5E-03	1.9E-03	2
rs1333047	CDKN2B-AS1	0.790	0.240	9	22124505	intron variant	A/T	snv		0.63	9
rs2303790	CETP	0.724	0.280	16	56983380	missense variant	A/G	snv	2.6E-03	6.5E-04	19
rs5063	CLCN6 ; NPPA-AS1 ; NPPA	0.763	0.280	1	11847591	missense variant	C/T	snv	5.6E-02	5.3E-02	12
rs750083965	DLGAP4-AS1 ; MYL9	0.882	0.160	20	36548073	missense variant	G/A	snv	4.0E-06		3
rs1240681880	DNAH8	0.882	0.160	6	38722870	missense variant	G/A	snv		2.1E-05	3
rs374691452	DNAH8	0.925	0.120	6	38723443	missense variant	T/A;C	snv	4.2E-06; 2.5E-05		2
rs751141	EPHX2	0.732	0.400	8	27516348	missense variant	G/A	snv	0.12	0.10	16
rs6180	GHR	0.827	0.160	5	42719137	missense variant	A/C	snv	0.44	0.43	6
rs33972927	HBB	0.925	0.080	11	5226612	missense variant	A/G	snv			2