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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs2281135	PNPLA3	0.851	0.160	22	43936690	intron variant	G/A	snv		0.19	10
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	10
rs738408	PNPLA3	0.925	0.120	22	43928850	synonymous variant	C/T	snv	0.28	0.22	10
rs4823173	PNPLA3	0.827	0.200	22	43932850	intron variant	G/A	snv	0.24	0.18	8
rs2143571	SAMM50	0.827	0.080	22	43995806	intron variant	G/A	snv		0.25	5
rs1010023	PNPLA3	0.851	0.080	22	43940218	intron variant	T/C	snv		0.20	4
rs12483959	PNPLA3	1.000		22	43930116	intron variant	G/A;C;T	snv			4
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
rs2076211	PNPLA3	1.000		22	43933198	intron variant	C/A;T	snv		0.18	3
rs2235776	SAMM50	0.925	0.040	22	43982119	intron variant	C/T	snv		0.24	3
rs738491	SAMM50 ; PNPLA3	0.882	0.040	22	43958231	intron variant	C/T	snv		0.34	3
rs1977081	PNPLA3	1.000		22	43934248	intron variant	T/C;G	snv			2
rs2073080	PARVB ; SAMM50	0.925	0.040	22	43998522	intron variant	C/T	snv		0.20	2
rs3761472	SAMM50	0.925	0.040	22	43972242	missense variant	A/G	snv	0.21	0.18	2
rs4823182	SAMM50	0.925	0.080	22	43981562	intron variant	A/G	snv		0.46	2
rs6006473	PARVB ; SAMM50	0.925	0.040	22	43997195	intron variant	C/T	snv		0.47	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