DisGeNET - a database of gene-disease associations

List of associated variants

Virus Diseases, C0042769

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs486907	RNASEL	0.667	0.360	1	182585422	missense variant	C/T	snv	0.31	0.28	32
rs3789679	AGT	0.925	0.120	1	230713948	intron variant	G/A;T	snv			4
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	33
rs4553808	CTLA4	0.672	0.320	2	203866282	upstream gene variant	A/G;T	snv		0.16	28
rs2287622	ABCB11	0.724	0.240	2	168973818	missense variant	A/C;G;T	snv	0.57		16
rs3136558	IL1B	1.000		2	112833698	intron variant	A/G	snv		0.21	4
rs12487066	LOC105374027	1.000	0.080	3	106193283	intron variant	T/C	snv		0.28	2
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs371194629	HLA-G	0.790	0.320	6	29830804	3 prime UTR variant	-/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT	ins			8
rs4273729		0.851	0.240	6	32710820	upstream gene variant	C/A;G;T	snv			5
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs1818879		0.827	0.120	7	22733108	downstream gene variant	G/A;C	snv			7
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
rs10814325	RECK	0.827	0.200	9	36036597	upstream gene variant	T/A;C;G	snv			7
rs1480480967	IFNA13	1.000	0.080	9	21367884	missense variant	C/T	snv	4.0E-06		2
rs1336795098	NUP214			9	131127544	synonymous variant	A/G	snv		7.0E-06	1
rs12252	IFITM3	0.695	0.240	11	320772	splice region variant	A/G	snv	0.13	0.13	23
rs35068180	MMP3	0.851	0.040	11	102845217	upstream gene variant	A/-;AA	delins			5
rs17886084	MMP1 ; WTAPP1	1.000	0.080	11	102799765	intron variant	C/-	delins			2