DisGeNET - a database of gene-disease associations

Disease: Dyslipidemias

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs2016520	PPARD	0.752	0.320	6	35411001	5 prime UTR variant	C/T	snv		0.78	16
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
rs2106809	ACE2	0.827	0.120	X	15599938	intron variant	A/G	snv		0.19	8
rs4240157	ACE2	0.925	0.080	X	15568841	intron variant	C/T	snv			4
rs4646188	ACE2	0.925	0.120	X	15583220	intron variant	A/G	snv		9.1E-02	4
rs879922	ACE2	0.882	0.160	X	15572684	intron variant	C/G	snv			4
rs4646155	ACE2	0.925	0.080	X	15579386	intron variant	C/T	snv		3.9E-02	3
rs4830542	ACE2	0.925	0.080	X	15558483	downstream gene variant	C/G;T	snv			3