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
rs1883350	PNPLA3	1.000		22	43932163	intron variant	T/C	snv		0.35	1
rs738491	SAMM50 ; PNPLA3	0.882	0.040	22	43958231	intron variant	C/T	snv		0.34	3
rs7643645	NR1I2	0.882	0.080	3	119806650	intron variant	A/G	snv		0.31	3
rs2294922	SAMM50	1.000		22	43983685	intron variant	G/C	snv		0.30	1
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs2143571	SAMM50	0.827	0.080	22	43995806	intron variant	G/A	snv		0.25	5
rs12597002	CETP	1.000		16	56968492	intron variant	C/A	snv		0.25	3
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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs738408	PNPLA3	0.925	0.120	22	43928850	synonymous variant	C/T	snv	0.28	0.22	10
rs2073079	SAMM50	1.000		22	43989714	intron variant	A/G	snv		0.21	1
rs694539	NNMT	0.776	0.200	11	114262697	intron variant	C/T	snv		0.21	10
rs3827385	SAMM50	1.000		22	43992937	intron variant	T/C	snv		0.21	1
rs2281298	SAMM50	1.000		22	43995354	intron variant	G/A	snv		0.21	1
rs10499563	STEAP1B	0.807	0.120	7	22720869	intron variant	T/C	snv		0.21	7
rs2401514	PARVB ; SAMM50	1.000		22	43998139	intron variant	T/A	snv		0.20	1
rs2294916	PNPLA3	1.000		22	43945042	intron variant	T/G	snv		0.20	1
rs4823179	PNPLA3	1.000		22	43945313	intron variant	T/C	snv		0.20	1
rs2073080	PARVB ; SAMM50	0.925	0.040	22	43998522	intron variant	C/T	snv		0.20	2
rs2896019	PNPLA3	0.790	0.160	22	43937814	intron variant	T/G	snv		0.20	10
rs1010023	PNPLA3	0.851	0.080	22	43940218	intron variant	T/C	snv		0.20	4
rs1010022	PNPLA3	1.000		22	43940430	intron variant	A/G	snv		0.20	1
rs2073081	PNPLA3	1.000		22	43939864	intron variant	T/C	snv		0.20	1
rs2072906	PNPLA3	0.851	0.160	22	43937292	intron variant	A/G	snv	0.25	0.20	4