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
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs1682111	ACYP2	0.742	0.240	2	54200842	intron variant	A/T	snv		0.56	13
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs510432	ATG5	0.752	0.280	6	106326155	upstream gene variant	T/C	snv		0.57	11
rs548234	ATG5	0.763	0.360	6	106120159	intron variant	C/T	snv		0.76	11
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
rs2229113	IL10RA	0.763	0.360	11	117998955	missense variant	A/G	snv	0.74	0.74	10
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	10
rs4374383	MERTK	0.776	0.200	2	112013193	intron variant	A/G	snv		0.58	10
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv			10
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
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
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
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