DisGeNET - a database of gene-disease associations

List of associated variants

Acquired Immunodeficiency Syndrome, C0001175

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
rs2894207	LINC02571 ; HLA-B	0.882	0.160	6	31295974	intron variant	T/C	snv		0.20	8
rs3117143	LOC100129636	0.882	0.160	6	29063365	intron variant	C/A	snv		5.2E-02	4
rs10484554	LOC112267902 ; HLA-B	0.807	0.200	6	31306778	intron variant	C/T	snv		0.12	11
rs909253	LTA ; LOC100287329	0.641	0.600	6	31572536	intron variant	A/G;T	snv			34
rs2516509	MICB-DT	0.882	0.160	6	31482217	intron variant	T/C	snv		0.19	7
rs3749971	OR12D3 ; OR5V1	0.925	0.160	6	29374998	missense variant	G/A	snv	5.5E-02	5.7E-02	4
rs11884476	PARD3B			2	205453869	intron variant	C/G	snv		0.11	1
rs3815087	PSORS1C1	0.851	0.200	6	31125810	5 prime UTR variant	G/A	snv		0.25	8
rs3823418	PSORS1C1	0.925	0.120	6	31133165	intron variant	G/A	snv		0.23	8
rs527476195	PSORS1C1	0.925	0.120	6	31133165	intron variant	G/A	snv			6
rs9261290	RNF39	0.807	0.280	6	30070870	3 prime UTR variant	T/C;G	snv	5.2E-02; 7.2E-06		10
rs9368699	SNHG32 ; SNORD48	0.851	0.200	6	31834764	non coding transcript exon variant	T/C	snv		3.2E-02	8
rs241447	TAP2	0.827	0.280	6	32828974	missense variant	T/C	snv	0.31	0.26	11
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs3093662	TNF	0.851	0.200	6	31576412	intron variant	A/G	snv		7.1E-02	9
rs12198173	TNXB	0.827	0.240	6	32059031	intron variant	G/A	snv		0.10	9
rs8321	ZNRD1	0.742	0.320	6	30064745	3 prime UTR variant	A/C	snv	5.4E-02	5.9E-02	16