DisGeNET - a database of gene-disease associations

List of associated variants

Chronic active hepatitis, C0520463

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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs56149945	NR3C1	0.595	0.680	5	143399752	missense variant	T/A;C	snv	2.0E-02		49
rs6471	CYP21A2	0.683	0.360	6	32040110	missense variant	G/A;C;T	snv	1.2E-05; 5.3E-03		24
rs9378251	CYP21A2	0.776	0.320	6	32038514	missense variant	C/T	snv	9.2E-05	5.4E-04	8
rs6475	CYP21A2	0.807	0.320	6	32039426	missense variant	T/A	snv	4.8E-04	1.2E-03	7
rs776989258	CYP21A2 ; TNXB	0.807	0.280	6	32041093	missense variant	C/G;T	snv	5.5E-04		6
rs768768839	POMC	0.807	0.280	2	25161679	missense variant	G/A	snv	5.6E-06		6
rs7755898	CYP21A2	0.827	0.240	6	32040421	stop gained	C/T	snv		3.6E-03	5
rs6445	TNXB ; CYP21A2	0.827	0.240	6	32041006	missense variant	C/T	snv	4.6E-03	5.2E-03	5
rs200737258	AR	0.882	0.240	X	67711476	missense variant	G/A	snv	2.1E-03	1.1E-03	4
rs387907572	CYP11B1 ; GML	0.851	0.240	8	142876278	missense variant	G/A	snv		7.0E-06	4
rs63749090	CYP21A2	0.851	0.280	6	32038468	missense variant	G/A	snv		2.1E-05	4
rs1447069098	CYP11B1 ; GML	0.882	0.240	8	142874997	missense variant	C/T	snv	4.0E-06		3
rs104894138	CYP17A1	0.882	0.240	10	102837076	missense variant	G/A	snv	2.8E-05	4.9E-05	3
rs104894143	CYP17A1-AS1 ; CYP17A1 ; WBP1L	0.882	0.240	10	102831535	missense variant	A/G	snv		7.0E-06	3
rs104894145	CYP17A1-AS1 ; CYP17A1 ; WBP1L	0.925	0.240	10	102830946	missense variant	G/A	snv			3
rs151344505	CYP21A2	0.882	0.240	6	32040179	missense variant	G/A	snv	1.1E-04	9.8E-05	3
rs759736443	CYP21A2 ; TNXB	0.882	0.240	6	32041096	missense variant	C/T	snv	2.1E-04; 2.7E-05	7.0E-06	3
rs1296969984	GML ; CYP11B1	0.882	0.240	8	142876243	missense variant	T/G	snv			3
rs1395589486	ACACA	0.925	0.080	17	37258316	missense variant	A/G	snv	4.0E-06		2
rs747079101	CYP21A2	0.925	0.240	6	32040491	missense variant	G/A;C	snv	3.2E-05		2
rs770059546	CYP21A2	0.925	0.240	6	32040197	missense variant	C/A;G	snv	5.7E-05		2
rs1312209092	CYP21A2 ; TNXB	0.925	0.240	6	32041068	missense variant	G/A	snv			2
rs151344504	CYP21A2 ; TNXB	0.925	0.240	6	32040926	missense variant	G/A	snv		7.0E-06	2