DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipidemia, C0020473

Source: ALL

Results per page

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
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs1251035592	CYP3A5 ; ZSCAN25	1.000	0.040	7	99664039	missense variant	T/C	snv	4.2E-06		1
rs3816873	MTTP	0.790	0.200	4	99583507	missense variant	T/C	snv	0.25	0.26	9
rs2071410	FURIN	0.882	0.160	15	90877710	intron variant	C/A;G;T	snv			7
rs17249754	ATP2B1	0.882	0.120	12	89666809	intron variant	G/A	snv		0.15	12
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs886916693	KIDINS220	1.000	0.040	2	8806360	missense variant	T/C	snv	4.1E-06		1
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs498005	HCN4	0.851	0.160	15	73327969	intron variant	C/T	snv		0.48	5
rs1256046734	LEPR	0.763	0.280	1	65621409	missense variant	A/G	snv		7.0E-06	12
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1256049	ESR2	0.645	0.560	14	64257333	synonymous variant	C/T	snv	6.7E-02	6.3E-02	32
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs174537	TMEM258 ; MYRF	0.708	0.400	11	61785208	non coding transcript exon variant	G/T	snv		0.28	23
rs773641005	GOT2	0.742	0.240	16	58723829	missense variant	T/C	snv			14
rs3829462	LIPC	1.000	0.040	15	58560880	missense variant	C/A;T	snv	0.97		1
rs6078	LIPC	0.882	0.120	15	58541794	missense variant	G/A;T	snv	7.1E-02; 8.0E-06		3
rs3803662	CASC16	0.662	0.440	16	52552429	non coding transcript exon variant	A/G	snv		0.63	25
rs1444332461	ARSA	1.000	0.040	22	50627185	missense variant	A/G	snv	4.1E-06		1
rs150599989	C5AR2	0.827	0.320	19	47341767	missense variant	G/A;C;T	snv	4.0E-06; 9.6E-05		5
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs2854744	IGFBP3	0.695	0.520	7	45921476	intron variant	G/T	snv		0.48	20
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs267606661	APOE	0.763	0.120	19	44909101	missense variant	C/G;T	snv	3.9E-04; 1.0E-05		10