DisGeNET - a database of gene-disease associations

List of associated variants

Metabolic Syndrome X, C0524620

Source: GWASDB ×

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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	14
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	4
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	10
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	3
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	1
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	1
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	10
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	1
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			8
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	5
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	10
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		3
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		5
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	1
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	6
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	4
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	4
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	5
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	1
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	25
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	3
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		3
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		2
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	24
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	8