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
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs5742909	CTLA4	0.614	0.680	2	203867624	upstream gene variant	C/T	snv		6.7E-02	40
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	33
rs2227982	LOC105373977 ; PDCD1	0.677	0.480	2	241851281	missense variant	G/A	snv	9.2E-02	4.3E-02	24
rs10204525	PDCD1	0.701	0.440	2	241850169	3 prime UTR variant	C/T	snv		0.21	20
rs2111485		0.724	0.280	2	162254026	regulatory region variant	A/G	snv		0.46	17
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
rs1042034	APOB	0.851	0.240	2	21002409	missense variant	C/T	snv	0.70	0.78	15
rs3747517	IFIH1	0.732	0.360	2	162272314	missense variant	T/C	snv	0.68	0.68	13
rs1207011218	CTLA4	0.742	0.440	2	203870794	synonymous variant	C/T	snv			12
rs1372834938	KIDINS220	0.763	0.280	2	8812465	missense variant	G/C	snv	4.2E-06		12
rs7566605	LOC107985940	0.752	0.320	2	118078449	regulatory region variant	C/G	snv		0.70	11
rs4374383	MERTK	0.776	0.200	2	112013193	intron variant	A/G	snv		0.58	10
rs1126579	CXCR2	0.776	0.200	2	218136011	3 prime UTR variant	T/C	snv		0.62	8
rs36084323	PDCD1	0.807	0.280	2	241859444	upstream gene variant	C/T	snv		5.4E-02	8
rs1143629	IL1B	0.882	0.160	2	112835941	intron variant	G/A	snv		0.60	3
rs1474358	C2orf88	0.925	0.120	2	190145376	intron variant	T/C	snv		5.3E-03	2
rs884000	LOC105373847	0.925	0.120	2	205815673	regulatory region variant	C/A	snv		0.71	2
rs13401937	RTN4	1.000	0.080	2	55025078	splice region variant	T/G	snv	0.11	0.14	1
rs6726639	MERTK	1.000	0.080	2	111995520	intron variant	A/C	snv		0.62	1
rs779916209	KIDINS220	1.000	0.080	2	8802958	missense variant	G/C	snv	4.0E-06		1
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147