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
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs1346044973	TERT	0.851	0.160	5	1294158	missense variant	G/A	snv	1.1E-05		4
rs675520	LOC102723649 ; LOC105378018	0.925	0.080	6	137672095	non coding transcript exon variant	A/G;T	snv			2
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs747432300	GPT ; LOC101928953	0.925	0.120	8	144504357	missense variant	C/A;T	snv	8.1E-06; 1.2E-04		2
rs1054690270	LOC101928953 ; GPT	0.827	0.160	8	144505907	frameshift variant	CT/-	delins			5
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs4646038	CASP9	0.925	0.080	1	15506705	intron variant	C/T	snv		7.0E-06	2
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs12075	CADM3-AS1 ; ACKR1	0.724	0.240	1	159205564	missense variant	G/A	snv	0.51	0.66	22
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs642588	IGF2R	0.925	0.120	6	159990235	intron variant	A/G	snv		0.83	2
rs629849	IGF2R	0.827	0.160	6	160073377	missense variant	A/C;G;T	snv	0.90	0.91	9
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs485618	CD244	0.851	0.160	1	160830690	3 prime UTR variant	T/A;C;G	snv		0.54	4
rs4656942	CD244	0.851	0.160	1	160861258	intron variant	G/A;C;T	snv			4
rs3820998	TANK ; LOC105373719	0.882	0.120	2	161138615	intron variant	C/A;T	snv			3
rs10945859	PRKN	0.882	0.120	6	162721570	intron variant	T/C	snv		0.17	3
rs2710833	DDX60L ; LOC107986198	0.925	0.080	4	168488807	intron variant	T/A;C	snv			2
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
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
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58