DisGeNET - a database of gene-disease associations

List of associated variants

HIV-1 infection, C2363741

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23
rs8177374	TIRAP	0.672	0.520	11	126292948	missense variant	C/T	snv	0.12	0.11	22
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs781172058	CXCR4	0.732	0.320	2	136115340	synonymous variant	C/T	snv	4.0E-06		16
rs371074389	LOC112268426 ; CXCR4	0.732	0.320	2	136115226	synonymous variant	C/T	snv	4.0E-06	4.2E-05	16
rs766914563	LOC112268426 ; CXCR4	0.732	0.320	2	136115082	synonymous variant	C/T	snv		7.0E-06	16
rs8321	ZNRD1	0.742	0.320	6	30064745	3 prime UTR variant	A/C	snv	5.4E-02	5.9E-02	16
rs368234815	IFNL4	0.742	0.280	19	39248514	frameshift variant	TT/G;T	delins			15
rs9264942	LOC112267902 ; HLA-B	0.763	0.400	6	31306603	intron variant	T/C	snv		0.34	15
rs1063320	HLA-G	0.752	0.360	6	29830972	3 prime UTR variant	C/G;T	snv			12
rs10484554	LOC112267902 ; HLA-B	0.807	0.200	6	31306778	intron variant	C/T	snv		0.12	11
rs1126478	LTF	0.763	0.240	3	46459723	missense variant	T/C	snv	0.41	0.51	11
rs241447	TAP2	0.827	0.280	6	32828974	missense variant	T/C	snv	0.31	0.26	11
rs6850	LOC105375259 ; PPIA	0.790	0.160	7	44796715	5 prime UTR variant	A/G;T	snv	0.26; 4.0E-06		9
rs1800451	MBL2	0.776	0.240	10	52771466	missense variant	C/T	snv	3.2E-02	7.9E-02	9
rs2229116	RYR3	0.827	0.080	15	33613209	missense variant	A/G	snv	0.23	0.21	9