DisGeNET - a database of gene-disease associations

List of associated variants

Metabolic Syndrome X, C0524620

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
rs4387351	EML3 ; ROM1	1.000	0.040	11	62613260	5 prime UTR variant	T/C	snv	0.98	0.94	2
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs1997623	CAV1	0.807	0.160	7	116525306	missense variant	A/C;G	snv	0.86		9
rs6590357	C11orf45 ; KCNJ5	0.882	0.120	11	128911444	synonymous variant	T/C	snv	0.84	0.85	3
rs5128	APOC3	0.925	0.080	11	116832924	3 prime UTR variant	G/C	snv	0.84	0.87	8
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs1981529	STEAP4	0.925	0.080	7	88284046	missense variant	C/A;T	snv	0.78		2
rs1549758	NOS3	0.807	0.360	7	150998638	synonymous variant	T/C	snv	0.76	0.76	7
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs4937391	KCNJ5	0.925	0.080	11	128916399	intron variant	G/A;C	snv	0.73		2
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs1801704	ADRB2	0.882	0.200	5	148826812	5 prime UTR variant	C/T	snv	0.68	0.68	3
rs4917	AHSG	0.790	0.160	3	186619924	missense variant	T/C	snv	0.68	0.68	9
rs4918	AHSG	0.763	0.400	3	186620593	missense variant	G/A;C	snv	0.67		12
rs10010131	WFS1	0.827	0.120	4	6291188	intron variant	A/G	snv	0.66	0.63	7
rs523349	SRD5A2	0.689	0.440	2	31580636	missense variant	G/A;C;T	snv	0.66; 4.9E-06		21
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs4757268	PDE3B	0.827	0.120	11	14789216	synonymous variant	A/G	snv	0.63	0.64	6
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs2277984	C3	0.925	0.120	19	6679500	splice region variant	C/T	snv	0.52	0.50	3