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
rs846910	HSD11B1 ; HSD11B1-AS1	0.882	0.160	1	209701909	intron variant	A/G	snv		0.95	6
rs4387351	EML3 ; ROM1	1.000	0.040	11	62613260	5 prime UTR variant	T/C	snv	0.98	0.94	2
rs10790162	BUD13	0.882	0.160	11	116768388	intron variant	A/G;T	snv		0.93	7
rs7350481		0.882	0.040	11	116715567	regulatory region variant	T/C	snv		0.93	8
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	19
rs715180	FLJ31104	1.000	0.040	5	56001471	intron variant	C/A	snv		0.93	1
rs7045890	MIRLET7D ; LINC02603	1.000	0.040	9	94177906	non coding transcript exon variant	G/A	snv		0.93	1
rs2160669	ZPR1	1.000	0.040	11	116776891	3 prime UTR variant	C/T	snv		0.92	5
rs1423096		0.925	0.080	19	7674291	upstream gene variant	T/C	snv		0.92	3
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs5128	APOC3	0.925	0.080	11	116832924	3 prime UTR variant	G/C	snv	0.84	0.87	8
rs6590357	C11orf45 ; KCNJ5	0.882	0.120	11	128911444	synonymous variant	T/C	snv	0.84	0.85	3
rs7973260	KSR2	0.851	0.120	12	117937681	intron variant	A/G	snv		0.83	7
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs495348	ALDH1A2	1.000	0.040	15	58395591	intron variant	C/G	snv		0.82	2
rs822396	ADIPOQ	0.732	0.400	3	186849088	intron variant	G/A	snv		0.81	16
rs3017887	NOX4	0.925	0.120	11	89492920	intron variant	A/C	snv		0.81	2
rs2963791		1.000	0.040	5	3844427	regulatory region variant	C/A	snv		0.80	2
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs2479	CIDEC	1.000	0.040	3	9866841	3 prime UTR variant	A/G	snv		0.79	1
rs2199503	GSK3B	0.851	0.080	3	120059642	intron variant	T/C	snv		0.79	4
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs892051	ZNF98 ; LOC105376917	1.000	0.040	19	22506585	intron variant	T/C	snv		0.78	2