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
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs17107315	SPINK1	0.620	0.440	5	147828115	missense variant	T/C	snv	9.1E-03	8.2E-03	40
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs2066844	NOD2	0.587	0.520	16	50712015	missense variant	C/T	snv	2.6E-02	2.9E-02	54
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs2217332	HERPUD1	0.882	0.160	16	56935236	missense variant	G/A	snv	0.15	0.14	4
rs2229113	IL10RA	0.763	0.360	11	117998955	missense variant	A/G	snv	0.74	0.74	10
rs2233682	PIN1	0.827	0.240	19	9838476	synonymous variant	G/A	snv	3.7E-02	6.3E-02	5
rs2234671	CXCR1	0.807	0.240	2	218164385	missense variant	C/G	snv	9.1E-02	0.11	7
rs2241880	SCARNA5 ; ATG16L1	0.627	0.600	2	233274722	missense variant	A/G	snv	0.45	0.44	37
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs2274567	CR1	0.776	0.400	1	207580276	missense variant	A/G	snv	0.25	0.21	10
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105