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
rs1879026	TLR3	1.000	0.080	4	186079167	intron variant	G/C;T	snv			3
rs111200466	TLR2	1.000	0.080	4	153684312	5 prime UTR variant	CGGCTGCTCGGCGTTCTCTCAGG/-	delins		0.17	2
rs121434622	FMR1	1.000	0.080	X	147936534	missense variant	T/A	snv			2
rs1371149614	SHBG	1.000	0.040	17	7630488	missense variant	G/C	snv	4.0E-06		2
rs1420111973	TLR4	1.000	0.080	9	117712527	synonymous variant	T/C	snv		7.0E-06	2
rs56163822	NR1H4	1.000	0.080	12	100493323	5 prime UTR variant	G/T	snv	4.7E-02	2.8E-02	2
rs757533393	POFUT1	1.000		20	32216664	missense variant	C/G;T	snv	1.2E-05		2
rs762623	CDKN1A ; DINOL	1.000	0.160	6	36677689	non coding transcript exon variant	G/A	snv		0.12	2
rs758564400	REN	0.925	0.120	1	204156683	missense variant	A/G	snv	4.0E-06		5
rs80338707	LOC100130283 ; PMM2	0.925	0.080	16	8847775	missense variant	G/A;C	snv	6.8E-05; 4.0E-06		4
rs11881222	IFNL3	0.925	0.080	19	39244283	intron variant	A/G	snv		0.30	3
rs2294918	PNPLA3	0.925	0.040	22	43946236	missense variant	A/G	snv	0.68	0.70	3
rs35724	NR1H4	0.925	0.040	12	100561600	intron variant	C/G	snv		0.52	3
rs7248668		0.925	0.080	19	39253181	upstream gene variant	G/A	snv		0.16	3
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs10433937	HSD17B13	0.882	0.080	4	87308948	intron variant	T/A;C;G	snv			4
rs104894630	SCO1	0.882	0.120	17	10692805	missense variant	G/A	snv			4
rs11465817	IL23R	0.882	0.120	1	67255414	intron variant	C/A;T	snv			4
rs2070666	APOC3	0.882	0.120	11	116830958	intron variant	T/A;C	snv			4
rs587777220	SCO1	0.882	0.120	17	10692932	missense variant	C/T	snv	1.2E-05	7.0E-06	4
rs7254880	ZNF699	0.882	0.160	19	9298599	intron variant	C/G	snv		0.16	4
rs2281135	PNPLA3	0.851	0.160	22	43936690	intron variant	G/A	snv		0.19	10
rs57749775	KRT8	0.851	0.080	12	52904822	missense variant	A/G;T	snv	1.7E-03; 4.0E-06		6
rs5743314	TLR3	0.851	0.160	4	186079221	intron variant	G/C;T	snv			5
rs137852769	GAREM2 ; HADHA	0.827	0.280	2	26195184	missense variant	C/G	snv	1.2E-03	1.0E-03	7