DisGeNET - a database of gene-disease associations

List of associated variants

AIDS related complex, C0001857

Source: ALL

Results per page

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
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2242318	EZR	1.000	0.080	6	158767096	intron variant	A/G	snv	0.62	0.67	1
rs1801195	WRN	0.776	0.240	8	31141764	missense variant	G/A;T	snv	8.0E-06; 0.45	0.46	8
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs2072668	OGG1	0.732	0.280	3	9756456	intron variant	C/G	snv	0.28	0.24	14
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs2229090	XPC	0.827	0.160	3	14145845	3 prime UTR variant	G/C	snv	0.25	0.22	6
rs1346044	WRN	0.708	0.440	8	31167138	missense variant	T/C	snv	0.24	0.23	23
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs1063147	BLM	0.807	0.120	15	90811275	synonymous variant	C/T	snv	0.15		6
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs74641138	MIP	0.925	0.080	12	56454295	missense variant	C/T	snv	2.4E-02	2.0E-02	2
rs200187971	EFNA5	1.000	0.080	5	107670640	5 prime UTR variant	G/A;C	snv	4.6E-06; 1.1E-02		1
rs144581330	EZR	1.000	0.080	6	158789367	missense variant	T/C	snv	1.7E-03	5.4E-04	1
rs201008479	EFNA5	1.000	0.080	5	107381274	missense variant	G/A	snv	4.6E-04	1.9E-04	1
rs199980747	EFNA5	1.000	0.080	5	107670512	synonymous variant	G/A	snv	1.7E-04	7.0E-05	1
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs11574311	WRN	0.776	0.160	8	31119144	intron variant	T/C	snv		0.16	8
rs2304277	OGG1 ; CAMK1	0.776	0.280	3	9759396	non coding transcript exon variant	G/A	snv		0.26	8
rs2725338	WRN	0.790	0.120	8	31042501	intron variant	G/A	snv		7.6E-02	7
rs2725383	WRN	0.807	0.120	8	31075099	intron variant	C/G	snv		0.76	6
rs4733220	WRN	0.807	0.120	8	31043374	intron variant	A/G	snv		0.50	6