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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2126259	LOC157273	1.000	8	9327636	intron variant	T/C	snv		0.87	9
rs1461729	LOC157273	1.000	8	9329732	intron variant	A/G	snv		0.88	5
rs12483959	PNPLA3	1.000	22	43930116	intron variant	G/A;C;T	snv			4
rs12447924	CETP	1.000	16	56960280	upstream gene variant	C/T	snv		0.76	3
rs12597002	CETP	1.000	16	56968492	intron variant	C/A	snv		0.25	3
rs2076211	PNPLA3	1.000	22	43933198	intron variant	C/A;T	snv		0.18	3
rs1977081	PNPLA3	1.000	22	43934248	intron variant	T/C;G	snv			2
rs1007863	SAMM50 ; PARVB	1.000	22	43999571	missense variant	T/A;C	snv	0.44		1
rs1010022	PNPLA3	1.000	22	43940430	intron variant	A/G	snv		0.20	1
rs11090617	PNPLA3	1.000	22	43930820	intron variant	C/T	snv		0.18	1
rs1474745	PNPLA3	1.000	22	43953356	intron variant	T/C	snv		0.19	1
rs1883349	PNPLA3	1.000	22	43936063	intron variant	G/A	snv		0.19	1
rs1883350	PNPLA3	1.000	22	43932163	intron variant	T/C	snv		0.35	1
rs2072905	PNPLA3	1.000	22	43937599	intron variant	C/G;T	snv			1
rs2073079	SAMM50	1.000	22	43989714	intron variant	A/G	snv		0.21	1
rs2073081	PNPLA3	1.000	22	43939864	intron variant	T/C	snv		0.20	1
rs2228530	PPP1CB	1.000	2	28778825	missense variant	A/C;G	snv			1
rs2235777	SAMM50	1.000	22	43982929	intron variant	C/T	snv		0.24	1
rs2235778	SAMM50	1.000	22	43993634	intron variant	T/C	snv		0.48	1
rs2281292	SAMM50 ; PARVB	1.000	22	43999509	intron variant	A/C	snv	0.44	0.47	1
rs2281298	SAMM50	1.000	22	43995354	intron variant	G/A	snv		0.21	1
rs2294916	PNPLA3	1.000	22	43945042	intron variant	T/G	snv		0.20	1
rs2294922	SAMM50	1.000	22	43983685	intron variant	G/C	snv		0.30	1
rs2401514	PARVB ; SAMM50	1.000	22	43998139	intron variant	T/A	snv		0.20	1
rs3788604	SAMM50	1.000	22	43992537	intron variant	A/G	snv		0.48	1