DisGeNET - a database of gene-disease associations

List of associated variants

Fatty Liver Disease, C4529962

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
rs12743824		0.925	0.040	1	99317401	intergenic variant	C/A	snv		0.48	2
rs1461729	LOC157273	1.000		8	9329732	intron variant	A/G	snv		0.88	5
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs6601299	LOC157273	0.925	0.040	8	9327181	intron variant	T/C	snv		0.88	5
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs12597002	CETP	1.000		16	56968492	intron variant	C/A	snv		0.25	3
rs12447924	CETP	1.000		16	56960280	upstream gene variant	C/T	snv		0.76	3
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs9940128	FTO	0.851	0.120	16	53766842	intron variant	G/A	snv		0.42	10
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs1007863	SAMM50 ; PARVB	1.000		22	43999571	missense variant	T/A;C	snv	0.44		1
rs2281292	SAMM50 ; PARVB	1.000		22	43999509	intron variant	A/C	snv	0.44	0.47	1
rs2073080	PARVB ; SAMM50	0.925	0.040	22	43998522	intron variant	C/T	snv		0.20	2
rs2401514	PARVB ; SAMM50	1.000		22	43998139	intron variant	T/A	snv		0.20	1
rs6006473	PARVB ; SAMM50	0.925	0.040	22	43997195	intron variant	C/T	snv		0.47	2
rs2143571	SAMM50	0.827	0.080	22	43995806	intron variant	G/A	snv		0.25	5
rs2281298	SAMM50	1.000		22	43995354	intron variant	G/A	snv		0.21	1
rs2235778	SAMM50	1.000		22	43993634	intron variant	T/C	snv		0.48	1
rs3827385	SAMM50	1.000		22	43992937	intron variant	T/C	snv		0.21	1
rs3788604	SAMM50	1.000		22	43992537	intron variant	A/G	snv		0.48	1
rs2073079	SAMM50	1.000		22	43989714	intron variant	A/G	snv		0.21	1
rs6006469	SAMM50	1.000		22	43987737	non coding transcript exon variant	C/G	snv		0.49	1