DisGeNET - a database of gene-disease associations

List of associated variants

Chronic granulomatous disease, C0018203

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
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70		32
rs1049255	CYBA	0.776	0.320	16	88643329	3 prime UTR variant	C/T	snv	0.49	0.48	9
rs1049254	CYBA	0.925	0.160	16	88643420	missense variant	A/C;G	snv	8.0E-06; 0.65		3
rs782047455	CYBB	0.925	0.160	X	37793674	missense variant	C/T	snv	5.5E-06		3
rs145360423	NCF1	0.925	0.120	7	74783529	stop gained	G/A	snv	6.9E-04	5.3E-04	3
rs104894515	CYBA	1.000	0.120	16	88643474	missense variant	G/T	snv			2
rs137854595	CYBB	1.000	0.120	X	37803886	missense variant	C/A;T	snv			2
rs137854596	CYBB	1.000	0.120	X	37803890	missense variant	C/G	snv			2
rs151344456	CYBB	1.000	0.120	X	37783510	missense variant	G/C	snv			2
rs151344484	CYBB	1.000	0.120	X	37803991	missense variant	C/T	snv			2
rs151344497	CYBB	1.000	0.080	X	37795999	missense variant	A/C	snv			2
rs151344498	CYBB	1.000	0.080	X	37798972	missense variant	A/C	snv			2
rs193922448	CYBB	1.000	0.120	X	37793716	missense variant	G/C	snv			2
rs4029402	NCF1	1.000	0.120	7	74777267	frameshift variant	GT/-	delins			2
rs119103274	NCF2 ; SMG7	1.000	0.120	1	183574605	missense variant	G/A	snv		1.4E-05	2
rs387906808	NCF4-AS1 ; NCF4	1.000		22	36867434	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 4.0E-06		2
rs1428754151	AR			X	67545583	missense variant	C/G;T	snv			1
rs1221526082	FANCD2			3	10032957	frameshift variant	TCAG/-	delins	8.0E-06		1
rs1489201208	NCF1			7	74785283	missense variant	G/A	snv			1
rs137878529	NCF2 ; SMG7			1	183574507	missense variant	T/C;G	snv			1
rs869025585	NCF4-AS1 ; NCF4			22	36864943	frameshift variant	-/AAGGAGGATC	delins			1
rs778501379	PLB1			2	28589481	missense variant	G/A;C;T	snv	1.2E-05; 1.2E-05; 4.0E-06		1
rs267606912	SMG7 ; NCF2			1	183574509	missense variant	T/A	snv			1