DisGeNET - a database of gene-disease associations

List of associated variants

Non-alcoholic Fatty Liver Disease, C0400966

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
rs17120035	APOA5	1.000	0.040	11	116793135	upstream gene variant	C/T	snv		6.4E-02	1
rs17222723	ABCC2	0.925	0.080	10	99836239	missense variant	T/A	snv	4.5E-02	5.5E-02	2
rs17321515		0.776	0.200	8	125474167	intron variant	A/G	snv		0.49	16
rs17618244	KLB	0.925	0.040	4	39446909	missense variant	G/A	snv	0.18	0.16	2
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs17883901	GCLC	0.851	0.240	6	53545239	intron variant	G/A;T	snv		6.2E-02	6
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs1800234	PPARA	0.807	0.240	22	46219983	missense variant	T/A;C	snv	4.0E-06; 1.1E-02		6
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800591	MTTP	0.882	0.120	4	99574331	intron variant	G/T	snv		0.26	3
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800804	MTTP	1.000	0.040	4	99574660	intron variant	T/C	snv		0.26	1
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805074	DMGDH	1.000	0.040	5	79028529	missense variant	A/G	snv	0.27	0.33	1
rs1805094	LEPR	0.716	0.440	1	65610269	missense variant	G/C;T	snv	0.16; 4.0E-06		16
rs1805096	LEPR	0.827	0.200	1	65636574	synonymous variant	G/A	snv	0.46	0.43	6
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1858999	GATAD2A	1.000	0.040	19	19386860	intron variant	C/G	snv		0.56	1
rs1881396	ZNF512	1.000	0.040	2	27621734	3 prime UTR variant	T/A;G	snv			1
rs1953124		1.000	0.040	13	65771915	regulatory region variant	C/A;G;T	snv			1