DisGeNET - a database of gene-disease associations

List of associated variants

Dyslipidemias, C0242339

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
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs2070665	APOA1 ; APOA1-AS			11	116836968	intron variant	A/C;G	snv	0.85		2
rs5128	APOC3	0.925	0.080	11	116832924	3 prime UTR variant	G/C	snv	0.84	0.87	8
rs5104	APOA4			11	116821618	missense variant	C/T	snv	0.80	0.85	2
rs2229238	IL6R	0.851	0.080	1	154465420	3 prime UTR variant	T/A;C	snv	0.80		5
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs2230808	ABCA1	0.827	0.240	9	104800523	missense variant	T/C	snv	0.71	0.60	6
rs17465637	MIA3	0.790	0.200	1	222650187	intron variant	A/C;G;T	snv	0.64; 6.4E-06		11
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs9370867	MYLIP	0.827	0.120	6	16145094	missense variant	A/G	snv	0.60	0.63	7
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs2297508	SREBF1	0.790	0.240	17	17812003	synonymous variant	C/G;T	snv	0.50; 7.5E-05		8
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs11868035	RAI1 ; SREBF1	0.763	0.200	17	17811787	splice region variant	G/A	snv	0.45	0.33	14
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs4743763	ABCA1	1.000	0.040	9	104830901	intron variant	A/C;T	snv	0.36		2
rs2043211	CARD8	0.653	0.480	19	48234449	missense variant	A/T	snv	0.33	0.29	29
rs3742264	CPB2 ; CPB2-AS1	0.742	0.400	13	46073959	missense variant	C/T	snv	0.31	0.35	17
rs1800588	ALDH1A2 ; LIPC	0.790	0.200	15	58431476	intron variant	C/G;T	snv	0.30		16