DisGeNET - a database of gene-disease associations

List of associated variants

Hepatitis C, C0019196

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
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143629	IL1B	0.882	0.160	2	112835941	intron variant	G/A	snv		0.60	3
rs3741981	OAS1	0.882	0.120	12	112911065	missense variant	G/A;C	snv			3
rs10774671	OAS1	0.732	0.480	12	112919388	splice acceptor variant	G/A;C	snv	0.67		14
rs2660	OAS1	0.851	0.160	12	112919637	missense variant	G/A	snv	0.71	0.75	4
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs7080536	HABP2 ; NRAP	0.683	0.360	10	113588287	missense variant	G/A	snv	2.2E-02	2.4E-02	27
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs13266634	SLC30A8 ; LOC105375716	0.724	0.480	8	117172544	missense variant	C/A;T	snv	0.29		23
rs77010898	CFTR	0.742	0.280	7	117642566	stop gained	G/A;C	snv	4.6E-04; 4.0E-06		13
rs2149356	TLR4	0.742	0.360	9	117711921	intron variant	T/G	snv		0.54	14
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs8191664	NEIL2	0.807	0.200	8	11786044	missense variant	G/A;C;T	snv	4.0E-05; 3.8E-02		7
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs2228055	IL10RA	0.851	0.280	11	117994131	missense variant	A/C;G	snv	8.2E-02		4
rs147257424	MTHFR	0.925	0.080	1	11801299	missense variant	C/A;G;T	snv	1.2E-05; 1.2E-05		2
rs7566605	LOC107985940	0.752	0.320	2	118078449	regulatory region variant	C/G	snv		0.70	11
rs775321729	CTSB	1.000	0.080	8	11845687	missense variant	G/A;C	snv	2.0E-05; 4.0E-06		1
rs779738653	CTSB	1.000	0.080	8	11847083	frameshift variant	GA/-	delins	4.0E-05	2.8E-05	1
rs200664537	CTSB	1.000	0.080	8	11847084	missense variant	G/A;C	snv	4.0E-06; 1.2E-04		1
rs1052020291	CTSB	1.000	0.080	8	11848075	missense variant	G/C	snv		7.0E-06	1
rs2055979	IL21-AS1 ; IL21	0.827	0.320	4	122619586	intron variant	C/A	snv		0.23	6
rs56378326	PKIB	1.000	0.080	6	122670278	intron variant	A/G	snv		2.6E-02	1