DisGeNET - a database of gene-disease associations

List of associated variants

Cirrhosis, C1623038

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1140409	MIR3064 ; DDX5	0.925	0.080	17	64500552	missense variant	A/C	snv	5.4E-02	5.0E-02	2
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	10
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs2234671	CXCR1	0.807	0.240	2	218164385	missense variant	C/G	snv	9.1E-02	0.11	7
rs430397	HSPA5	0.763	0.240	9	125238840	intron variant	C/T	snv	9.1E-02	0.11	9
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs7254880	ZNF699	0.882	0.160	19	9298599	intron variant	C/G	snv		0.16	4
rs10945859	PRKN	0.882	0.120	6	162721570	intron variant	T/C	snv		0.17	3
rs843645	ACYP2	0.827	0.120	2	54247527	intron variant	T/A;G	snv		0.19	5
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs6834059	AFP	0.925	0.080	4	73435958	intron variant	C/G	snv		0.23	2
rs6834314		0.807	0.160	4	87292656	intergenic variant	A/G	snv		0.24	10
rs1041740	SOD1	0.807	0.320	21	31667849	intron variant	C/T	snv		0.24	8
rs7664413	VEGFC ; LOC105377555	0.851	0.160	4	176687553	intron variant	C/T	snv	0.24	0.25	7
rs12304647	MIR196A2 ; HOXC6	0.807	0.160	12	53991163	intron variant	A/C	snv		0.26	6