DisGeNET - a database of gene-disease associations

List of shared variants

Non-alcoholic Fatty Liver Disease, C0400966

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs1232898090	PPARA	0.637	0.600	22	46198429	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		40
rs5186	AGTR1	0.630	0.560	3	148742201	3 prime UTR variant	A/C	snv	0.23	0.21	38
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34