DisGeNET - a database of gene-disease associations

List of associated variants

Hepatitis, C0019158

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
rs4803217	IFNL3	0.882	0.120	19	39243580	3 prime UTR variant	C/A	snv		0.39	4
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs368234815	IFNL4	0.742	0.280	19	39248514	frameshift variant	TT/G;T	delins			15
rs10853728		0.851	0.160	19	39254506	downstream gene variant	C/A;G;T	snv			5
rs4683336	KRBOX1 ; ACKR2			3	42818461	intron variant	C/T	snv		0.61	1
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs352139	TLR9	0.732	0.320	3	52224356	intron variant	T/C	snv	0.51	0.54	18
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36
rs2174866	LOC107983981			15	53172023	intergenic variant	A/T	snv		6.2E-02	1
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs641738	LOC112268246 ; TMC4 ; MBOAT7	0.689	0.320	19	54173068	missense variant	T/A;C;G	snv			22
rs8014067	SYT16			14	62086539	intron variant	A/T	snv		0.79	1
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20