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
rs121918664	TERT	0.851	0.120	5	1254395	missense variant	C/T	snv	5.2E-05	9.1E-05	4
rs1346044973	TERT	0.851	0.160	5	1294158	missense variant	G/A	snv	1.1E-05		4
rs7254880	ZNF699	0.882	0.160	19	9298599	intron variant	C/G	snv		0.16	4
rs843645	ACYP2	0.827	0.120	2	54247527	intron variant	T/A;G	snv		0.19	5
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
rs1054690270	LOC101928953 ; GPT	0.827	0.160	8	144505907	frameshift variant	CT/-	delins			5
rs143175221	LOC108783645 ; HFE	0.827	0.200	6	26092952	missense variant	T/C	snv	8.4E-04	5.6E-04	5
rs16851720	RNF7	0.827	0.120	3	141744456	intron variant	A/C	snv		0.21	5
rs5743314	TLR3	0.851	0.160	4	186079221	intron variant	G/C;T	snv			5
rs4074	CXCL1	0.827	0.200	4	73870427	intron variant	A/G	snv		0.46	6
rs57749775	KRT8	0.851	0.080	12	52904822	missense variant	A/G;T	snv	1.7E-03; 4.0E-06		6
rs11003123	MBL2	0.827	0.200	10	52771774	upstream gene variant	G/A	snv		0.30	6
rs12304647	MIR196A2 ; HOXC6	0.807	0.160	12	53991163	intron variant	A/C	snv		0.26	6
rs2289030	MIR492 ; KRT19P2	0.882	0.120	12	94834510	non coding transcript exon variant	G/C	snv	9.7E-02	6.3E-02	6
rs2234671	CXCR1	0.807	0.240	2	218164385	missense variant	C/G	snv	9.1E-02	0.11	7
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv			7
rs7664413	VEGFC ; LOC105377555	0.851	0.160	4	176687553	intron variant	C/T	snv	0.24	0.25	7
rs4646437	CYP3A4	0.827	0.200	7	99767460	intron variant	G/A	snv		0.30	8
rs1041740	SOD1	0.807	0.320	21	31667849	intron variant	C/T	snv		0.24	8
rs430397	HSPA5	0.763	0.240	9	125238840	intron variant	C/T	snv	9.1E-02	0.11	9
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
rs6834314		0.807	0.160	4	87292656	intergenic variant	A/G	snv		0.24	10
rs843720	ACYP2 ; LOC105374610	0.752	0.280	2	54283523	intron variant	T/G	snv		0.52	10