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
rs2234671	CXCR1	0.807	0.240	2	218164385	missense variant	C/G	snv	9.1E-02	0.11	7
rs4646437	CYP3A4	0.827	0.200	7	99767460	intron variant	G/A	snv		0.30	8
rs1012068	DEPDC5	0.827	0.160	22	31869917	intron variant	T/G	snv		0.37	5
rs5998152	DEPDC5	0.827	0.160	22	31867176	intron variant	T/C	snv		0.37	5
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs755284374	HFE	0.882	0.120	6	26093122	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		3
rs897206619	HFE	0.882	0.120	6	26093128	missense variant	C/T	snv		3.5E-05	3
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1431315635	HFE ; LOC108783645	0.882	0.120	6	26092928	missense variant	C/T	snv	4.0E-06		3
rs1275561861	HLA-A	0.672	0.360	6	29944350	missense variant	G/A	snv			23
rs3077	HLA-DPA1	0.701	0.440	6	33065245	3 prime UTR variant	A/G	snv		0.29	16
rs2071746	HMOX1	0.708	0.320	22	35380679	intron variant	A/T	snv		0.49	18
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs72613567	HSD17B13	0.742	0.320	4	87310240	splice donor variant	-/A	delins	0.22		14
rs10433937	HSD17B13	0.882	0.080	4	87308948	intron variant	T/A;C;G	snv			4
rs430397	HSPA5	0.763	0.240	9	125238840	intron variant	C/T	snv	9.1E-02	0.11	9
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs2229113	IL10RA	0.763	0.360	11	117998955	missense variant	A/G	snv	0.74	0.74	10
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	10