DisGeNET - a database of gene-disease associations

List of associated variants

AIDS related complex, C0001857

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
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
rs2057768		0.925	0.120	16	27310774	upstream gene variant	C/A;G;T	snv			4
rs2107356	IL4R	0.851	0.240	16	27312083	upstream gene variant	C/T	snv		0.35	4
rs7278468	LOC107987300 ; CRYAA	0.882	0.280	21	43168647	upstream gene variant	T/A;G	snv			3
rs2132397	GJA8 ; LOC105371229	0.925	0.120	1	147909431	downstream gene variant	A/G	snv		0.17	2
rs477558		0.925	0.080	1	17893333	intergenic variant	G/A	snv		0.54	2
rs6657114	GJA8	0.925	0.120	1	147905591	upstream gene variant	G/T	snv		0.27	2
rs7541950	GJA8	0.925	0.120	1	147903855	upstream gene variant	C/T	snv		0.55	2
rs7548209		0.925	0.080	1	16122127	downstream gene variant	G/C	snv		0.36	2
rs10981985	LOC105376167	1.000	0.080	9	97405289	intron variant	G/A	snv		0.12	1
rs12432994	KLC1	1.000	0.080	14	103672302	intron variant	C/T	snv		0.22	1
rs13053109	CRYAA ; LOC107987300	1.000	0.080	21	43168609	non coding transcript exon variant	G/C	snv		4.1E-05	1
rs2278414	ZNF350 ; ZNF350-AS1	1.000	0.080	19	51964569	3 prime UTR variant	G/A	snv		0.11	1
rs3761382	CRYAA ; LOC107987300	1.000	0.080	21	43168313	intron variant	C/T	snv			1
rs4585	C11orf65 ; ATM	1.000	0.080	11	108368901	3 prime UTR variant	G/T	snv		0.53	1
rs4639	NEIL2 ; LOC105379243	1.000	0.080	8	11787242	3 prime UTR variant	A/G	snv		0.39	1
rs5881286	EZR	1.000	0.080	6	158766846	3 prime UTR variant	CA/-	delins		0.41	1
rs7150141	KLC1	1.000	0.080	14	103663015	intron variant	G/A	snv		0.33	1
rs7154572	KLC1	1.000	0.080	14	103639077	intron variant	C/T	snv		0.27	1
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55