DisGeNET - a database of gene-disease associations

List of associated variants

Liver diseases, C0023895

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
rs137852769	GAREM2 ; HADHA	0.827	0.280	2	26195184	missense variant	C/G	snv	1.2E-03	1.0E-03	7
rs1420111973	TLR4	1.000	0.080	9	117712527	synonymous variant	T/C	snv		7.0E-06	2
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1879026	TLR3	1.000	0.080	4	186079167	intron variant	G/C;T	snv			3
rs1921	ISG15			1	1014228	missense variant	G/A;C	snv	0.36		1
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs200192581	SORBS1			10	95381729	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs2070666	APOC3	0.882	0.120	11	116830958	intron variant	T/A;C	snv			4
rs2071025	COL11A2			6	33175979	intron variant	A/G	snv	0.28	0.29	1
rs2227982	LOC105373977 ; PDCD1	0.677	0.480	2	241851281	missense variant	G/A	snv	9.2E-02	4.3E-02	24
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs2274567	CR1	0.776	0.400	1	207580276	missense variant	A/G	snv	0.25	0.21	10
rs2281135	PNPLA3	0.851	0.160	22	43936690	intron variant	G/A	snv		0.19	10
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs2294918	PNPLA3	0.925	0.040	22	43946236	missense variant	A/G	snv	0.68	0.70	3
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13