DisGeNET - a database of gene-disease associations

List of associated variants

Hepatitis B, Chronic, C0524909

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs8099917		0.581	0.600	19	39252525	upstream gene variant	T/G	snv		0.16	60
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs1799724	LTA ; TNF	0.600	0.680	6	31574705	upstream gene variant	C/T	snv		8.5E-02	47
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs12980275		0.701	0.360	19	39241143	upstream gene variant	A/G	snv		0.36	23
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23