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
rs7254880	ZNF699	0.882	0.160	19	9298599	intron variant	C/G	snv		0.16	4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs7664413	VEGFC ; LOC105377555	0.851	0.160	4	176687553	intron variant	C/T	snv	0.24	0.25	7
rs1485766	VEGFC ; LOC105377555	0.882	0.120	4	176689730	intron variant	T/A;G	snv			3
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
rs910049	TSBP1-AS1 ; TSBP1	0.776	0.400	6	32347950	intron variant	T/C	snv		0.76	8
rs886277	TRPM5	1.000	0.080	11	2418537	missense variant	T/C	snv	0.44	0.47	1
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1161457931	TMPRSS6	0.763	0.200	22	37084836	missense variant	C/T	snv	6.4E-06		9
rs1208663703	TMPRSS6	0.763	0.200	22	37086414	missense variant	T/C	snv	5.2E-06	7.0E-06	9
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs5744174	TLR5	0.742	0.360	1	223111186	missense variant	A/G	snv	0.39	0.34	13
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs3775290	TLR3	0.742	0.280	4	186083063	missense variant	C/A;T	snv	0.30		15
rs5743314	TLR3	0.851	0.160	4	186079221	intron variant	G/C;T	snv			5
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs757075712	TFAM	0.763	0.200	10	58390856	missense variant	C/T	snv	1.6E-05	1.4E-05	15
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48