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
rs2144908	LOC105372629 ; HNF4A	0.851	0.120	20	44357077	intron variant	G/A	snv		0.18	5
rs1051295	KCNB1 ; LOC105372649	0.925	0.080	20	49372368	3 prime UTR variant	A/G	snv		0.22	3
rs2425637	HNF4A ; HNF4A-AS1	0.925	0.080	20	44395409	intron variant	G/T	snv		0.42	3
rs1545	MKKS	0.925	0.080	20	10405365	missense variant	C/A	snv	0.14	0.14	2
rs1547	MKKS	0.925	0.080	20	10405411	missense variant	G/A	snv	0.14	0.14	2
rs3212183	HNF4A ; MIR3646	0.925	0.080	20	44406498	intron variant	C/T	snv		0.58	2
rs745975	HNF4A	0.925	0.080	20	44406053	splice region variant	C/T	snv	0.20	0.18	2
rs2179706	PCK1	1.000	0.040	20	57564815	non coding transcript exon variant	C/T	snv		0.44	1
rs2294901	MKKS	1.000	0.040	20	10404855	3 prime UTR variant	A/G	snv		0.14	1
rs362551	SNAP25-AS1 ; LOC112268268	1.000	0.040	20	10314788	intron variant	C/A;T	snv			1
rs6077785	MKKS	1.000	0.040	20	10430806	intron variant	A/C;T	snv			1
rs6108572	MKKS	1.000	0.040	20	10432111	intron variant	A/T	snv		0.52	1
rs6130608	HNF4A ; HNF4A-AS1	1.000	0.040	20	44395368	intron variant	T/C	snv		0.33	1
rs6133922	MKKS	1.000	0.040	20	10420425	intron variant	A/G	snv		6.4E-02	1
rs736824	HNF4A	1.000	0.040	20	44406020	intron variant	T/C	snv	0.50	0.45	1
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs2108622	CYP4F2	0.742	0.280	19	15879621	missense variant	C/T	snv	0.27	0.22	20
rs116843064	ANGPTL4	0.776	0.160	19	8364439	missense variant	G/A	snv	1.3E-02	1.5E-02	16
rs2695121	NR1H2	0.716	0.280	19	50377484	5 prime UTR variant	T/C	snv		0.70	16
rs1044250	ANGPTL4	0.807	0.240	19	8371280	missense variant	C/T	snv	0.30	0.29	12
rs1862513	RETN	0.763	0.360	19	7668907	upstream gene variant	C/G;T	snv			11