DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipidemia, Familial Combined, C0020474

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
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs1801278	IRS1	0.637	0.560	2	226795828	missense variant	C/G;T	snv	4.0E-06; 5.2E-02		38
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs12255372	TCF7L2	0.667	0.480	10	113049143	intron variant	G/A;T	snv			28
rs4961	ADD1	0.683	0.400	4	2904980	missense variant	G/A;T	snv	1.2E-05; 0.20		27
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	19
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs1801177	LPL	0.742	0.240	8	19948197	missense variant	G/A;C	snv	1.4E-02; 2.0E-05		14
rs3812316	MLXIPL	0.763	0.240	7	73606007	missense variant	C/G	snv	0.10	9.4E-02	14
rs17145738	TBL2	0.851	0.200	7	73568544	3 prime UTR variant	C/T	snv		0.11	11
rs3737787	TSTD1 ; USF1	0.763	0.280	1	161039733	3 prime UTR variant	G/A	snv		0.21	11
rs118204060	LPL	0.807	0.160	8	19954279	missense variant	C/T	snv	4.0E-05	1.4E-05	9
rs121918394	APOE	0.882	0.080	19	44908786	missense variant	A/C;G	snv	6.5E-06		5
rs150599989	C5AR2	0.827	0.320	19	47341767	missense variant	G/A;C;T	snv	4.0E-06; 9.6E-05		5
rs200222843	APOB	0.851	0.120	2	21003286	missense variant	G/A	snv	4.0E-05	4.2E-05	4
rs2073658	USF1	0.882	0.200	1	161040972	intron variant	C/T	snv		0.21	4
rs6078	LIPC	0.882	0.120	15	58541794	missense variant	G/A;T	snv	7.1E-02; 8.0E-06		3
rs2187331	LOC107984343	0.925	0.080	11	68678956	upstream gene variant	C/T	snv		0.84	3
rs2071282	NOTCH4	0.925	0.200	6	32221166	missense variant	G/A	snv	4.7E-03	1.4E-03	3
rs374527448	CD44	0.925	0.080	11	35189859	missense variant	G/A;T	snv	2.8E-05; 8.0E-06		2