DisGeNET - a database of gene-disease associations

List of shared variants

Coronary Arteriosclerosis, C0010054

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
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs1049353	CNR1	0.630	0.600	6	88143916	synonymous variant	C/T	snv	0.21	0.20	42
rs3091244	CRP	0.724	0.280	1	159714875	upstream gene variant	G/A;T	snv			17
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	32
rs2000813	LIPG	0.763	0.200	18	49567494	missense variant	C/A;T	snv	4.0E-06; 0.27; 4.0E-06	0.23	9
rs80356814	LMNA	0.732	0.320	1	156138697	synonymous variant	C/T	snv	8.0E-06		15
rs1041981	LOC100287329 ; LTA	0.667	0.520	6	31573007	missense variant	C/A	snv	0.35	0.38	25
rs16147	LOC107986777 ; NPY	0.695	0.400	7	24283791	upstream gene variant	T/C	snv		0.48	18
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	19