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
rs2072905	PNPLA3	1.000		22	43937599	intron variant	C/G;T	snv			1
rs2072906	PNPLA3	0.851	0.160	22	43937292	intron variant	A/G	snv	0.25	0.20	4
rs2072907	PNPLA3	0.882	0.120	22	43936773	intron variant	C/G	snv		0.20	3
rs2073079	SAMM50	1.000		22	43989714	intron variant	A/G	snv		0.21	1
rs2073080	PARVB ; SAMM50	0.925	0.040	22	43998522	intron variant	C/T	snv		0.20	2
rs2073081	PNPLA3	1.000		22	43939864	intron variant	T/C	snv		0.20	1
rs2076211	PNPLA3	1.000		22	43933198	intron variant	C/A;T	snv		0.18	3
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs2143571	SAMM50	0.827	0.080	22	43995806	intron variant	G/A	snv		0.25	5
rs2228530	PPP1CB	1.000		2	28778825	missense variant	A/C;G	snv			1
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2235776	SAMM50	0.925	0.040	22	43982119	intron variant	C/T	snv		0.24	3
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
rs2281135	PNPLA3	0.851	0.160	22	43936690	intron variant	G/A	snv		0.19	10
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
rs2290602	PPARGC1A	0.882	0.040	4	23824109	intron variant	T/A;G	snv			3
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
rs2645424	FDFT1	0.827	0.120	8	11826954	intron variant	A/C;G	snv		0.56	5
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	10
rs3480	FNDC5	0.807	0.160	1	32862564	3 prime UTR variant	G/A	snv		0.56	8
rs3761472	SAMM50	0.925	0.040	22	43972242	missense variant	A/G	snv	0.21	0.18	2