DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein cholesterol measurement, C0202117

Disease: Metabolic Syndrome X

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv		0.31	26
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	24
rs247617		0.827	0.160	16	56956804	regulatory region variant	C/A	snv		0.29	20
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	18
rs174546	FADS1 ; FADS2	0.807	0.200	11	61802358	3 prime UTR variant	C/T	snv		0.28	17
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			14
rs1883025	ABCA1	0.807	0.120	9	104902020	intron variant	C/T	snv		0.28	13
rs173539		0.882	0.080	16	56954132	intergenic variant	C/T	snv		0.33	11
rs2075290	ZPR1	0.882	0.160	11	116782580	intron variant	C/G;T	snv			10
rs6589566	ZPR1	0.882	0.080	11	116781707	intron variant	G/A;C;T	snv			10
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs12686004	ABCA1	1.000	0.040	9	104891145	intron variant	G/A	snv		9.1E-02	6