DisGeNET - a database of gene-disease associations

List of associated variants

Liver Cirrhosis, C0023890

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
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs2297518	NOS2	0.658	0.480	17	27769571	missense variant	G/A	snv	0.18	0.17	30
rs2303015	CALCOCO2	0.851	0.160	17	48852546	missense variant	T/C	snv	7.4E-02	0.12	4
rs376373278	MPO	0.882	0.120	17	58279015	missense variant	G/A;C	snv	4.2E-06		3
rs972427414	MPO	0.882	0.120	17	58279379	missense variant	A/G	snv			3
rs1140409	MIR3064 ; DDX5	0.925	0.080	17	64500552	missense variant	A/C	snv	5.4E-02	5.0E-02	2
rs3730017	NOS2	1.000	0.080	17	27782076	missense variant	G/A	snv	3.7E-02	7.2E-02	1
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs2217332	HERPUD1	0.882	0.160	16	56935236	missense variant	G/A	snv	0.15	0.14	4
rs137853590	PHKG2	0.882	0.160	16	30751140	stop gained	C/T	snv	4.0E-06		3
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13
rs8021276		0.925	0.080	14	92110162	upstream gene variant	A/G;T	snv			2
rs10146249	ATXN3	1.000	0.080	14	92074996	intron variant	C/A	snv		0.29	1
rs7158733	ATXN3	1.000	0.080	14	92070879	stop gained	G/A;T	snv	1.2E-05; 0.27		1
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs367956522	ATP7B	0.851	0.240	13	51949798	splice acceptor variant	T/C	snv	2.4E-05	7.7E-05	7
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs11554495	KRT8	0.701	0.240	12	52904798	missense variant	C/A	snv	4.9E-03	5.4E-03	19
rs12304647	MIR196A2 ; HOXC6	0.807	0.160	12	53991163	intron variant	A/C	snv		0.26	6