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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	10
rs2294916	PNPLA3	1.000		22	43945042	intron variant	T/G	snv		0.20	1
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs1977081	PNPLA3	1.000		22	43934248	intron variant	T/C;G	snv			2
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs10499563	STEAP1B	0.807	0.120	7	22720869	intron variant	T/C	snv		0.21	7
rs2071303	LOC108783645 ; HFE	0.882	0.120	6	26091108	splice region variant	T/C	snv	0.38	0.36	6
rs6601299	LOC157273	0.925	0.040	8	9327181	intron variant	T/C	snv		0.88	5
rs1010023	PNPLA3	0.851	0.080	22	43940218	intron variant	T/C	snv		0.20	4
rs1474745	PNPLA3	1.000		22	43953356	intron variant	T/C	snv		0.19	1
rs1883350	PNPLA3	1.000		22	43932163	intron variant	T/C	snv		0.35	1
rs2073081	PNPLA3	1.000		22	43939864	intron variant	T/C	snv		0.20	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
rs4823179	PNPLA3	1.000		22	43945313	intron variant	T/C	snv		0.20	1
rs2290602	PPARGC1A	0.882	0.040	4	23824109	intron variant	T/A;G	snv			3
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs1007863	SAMM50 ; PARVB	1.000		22	43999571	missense variant	T/A;C	snv	0.44		1
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs2401514	PARVB ; SAMM50	1.000		22	43998139	intron variant	T/A	snv		0.20	1
rs2294922	SAMM50	1.000		22	43983685	intron variant	G/C	snv		0.30	1
rs6006468	SAMM50	1.000		22	43987552	non coding transcript exon variant	G/C	snv		0.48	1