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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs9940128	FTO	0.851	0.120	16	53766842	intron variant	G/A	snv		0.42	10
rs694539	NNMT	0.776	0.200	11	114262697	intron variant	C/T	snv		0.21	10
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