DisGeNET - a database of gene-disease associations

List of associated variants

High density lipoprotein measurement, C0392885

Source: GWASDB ×

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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
rs261290	ALDH1A2			15	58386521	intron variant	T/C	snv		0.64	1
rs261291	ALDH1A2	1.000	0.080	15	58387979	intron variant	T/A;C	snv			1
rs7350789	ALDH1A2			15	58387469	intron variant	G/A	snv		0.35	1
rs127430	APCDD1L-DT			20	58589799	intron variant	A/G;T	snv			1
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		1
rs459193	C5orf67	0.925	0.120	5	56510924	downstream gene variant	A/G	snv		0.69	1
rs9686661	C5orf67	1.000	0.080	5	56565959	intron variant	C/T	snv		0.20	1
rs884366	CCDC162P			6	109252892	intron variant	G/A	snv		0.25	1
rs4714556	CCND3			6	42025491	intron variant	A/G	snv		0.39	1
rs7726839	CEP72			5	618471	intron variant	A/G	snv		0.31	1
rs267738	CERS2	1.000	0.040	1	150968149	missense variant	T/A;G	snv	4.0E-06; 0.15		1
rs118146573	CETP			16	56967026	intron variant	G/A	snv		9.4E-02	1
rs1128249	COBLL1	1.000	0.080	2	164672114	intron variant	G/C;T	snv			1
rs1011731	DNM3 ; PIGC			1	172377408	intron variant	G/A	snv		0.46	1
rs4495740	DOCK7			1	62658794	intron variant	T/G	snv		0.34	1
rs3729639	EXOC3L1 ; E2F4	1.000	0.040	16	67191598	upstream gene variant	C/T	snv		0.18	1
rs174554	FADS1 ; FADS2	1.000	0.080	11	61811991	intron variant	A/G	snv	0.40	0.28	1
rs174566	FADS1 ; FADS2	0.925	0.160	11	61824890	intron variant	A/G	snv		0.34	1
rs2929282	FRMD5			15	43953733	intron variant	A/T	snv		0.13	1
rs11248051	GAK	1.000	0.040	4	864544	intron variant	C/G;T	snv			1
rs77768175	HECTD4	1.000	0.040	12	112298314	intron variant	A/G	snv		5.8E-03	1
rs28366301	HLA-DRB1	1.000	0.040	6	32593106	upstream gene variant	G/A	snv		0.26	1
rs7890572	IL1RAPL1			X	29622701	intron variant	A/G	snv		9.3E-02	1
rs496300	LINC01679	1.000	0.040	21	43359800	intron variant	C/T	snv		0.73	1
rs1077834	LIPC ; ALDH1A2			15	58431280	intron variant	T/C	snv		0.34	1