DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipidemia, C0020473

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
rs12229654		0.763	0.320	12	110976657	intergenic variant	T/G	snv		4.8E-03	20
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs773641005	GOT2	0.742	0.240	16	58723829	missense variant	T/C	snv			14
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	13
rs3816873	MTTP	0.790	0.200	4	99583507	missense variant	T/C	snv	0.25	0.26	9
rs1251035592	CYP3A5 ; ZSCAN25	1.000	0.040	7	99664039	missense variant	T/C	snv	4.2E-06		1
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
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs11066280	HECTD4	0.742	0.280	12	112379979	intron variant	T/A	snv		7.0E-03	27
rs2222823	MYLK	0.925	0.080	3	123885940	upstream gene variant	T/A	snv		0.14	4
rs174537	TMEM258 ; MYRF	0.708	0.400	11	61785208	non coding transcript exon variant	G/T	snv		0.28	23
rs2854744	IGFBP3	0.695	0.520	7	45921476	intron variant	G/T	snv		0.48	20
rs2228314	SREBF2	0.790	0.360	22	41880738	missense variant	G/C	snv	0.34	0.38	8
rs920435389	FGFR4	1.000	0.040	5	177091064	missense variant	G/C	snv			3
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs676210	APOB	0.925	0.120	2	21008652	missense variant	G/A;T	snv	0.29		12
rs6078	LIPC	0.882	0.120	15	58541794	missense variant	G/A;T	snv	7.1E-02; 8.0E-06		3
rs150599989	C5AR2	0.827	0.320	19	47341767	missense variant	G/A;C;T	snv	4.0E-06; 9.6E-05		5
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33