DisGeNET - a database of gene-disease associations

List of associated variants

Cytomegalovirus Infections, C0010823

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
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84
rs3775291	TLR3	0.602	0.640	4	186082920	missense variant	C/G;T	snv	1.2E-04; 0.28		51
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1799964	LTA ; LOC100287329 ; TNF	0.608	0.760	6	31574531	upstream gene variant	T/C	snv		0.19	47
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs352140	TLR9	0.630	0.680	3	52222681	synonymous variant	C/A;G;T	snv	2.0E-05; 0.49		42
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs352139	TLR9	0.732	0.320	3	52224356	intron variant	T/C	snv	0.51	0.54	18
rs368234815	IFNL4	0.742	0.280	19	39248514	frameshift variant	TT/G;T	delins			15
rs3775290	TLR3	0.742	0.280	4	186083063	missense variant	C/A;T	snv	0.30		15
rs3775296	TLR3	0.851	0.160	4	186076613	splice region variant	C/A	snv	0.18	0.18	6
rs2596538	MICA ; MICA-AS1	0.851	0.160	6	31400855	intron variant	G/A	snv		0.41	5
rs4904210	PAX9	0.851	0.080	14	36666548	missense variant	G/C	snv	0.36	0.33	5
rs7902091	CTNNA3	1.000	0.040	10	66838534	intron variant	C/A	snv		0.29	2
rs1061680	LILRB1	1.000	0.040	19	54632001	missense variant	C/T	snv			2
rs1297986	LINC00636	1.000	0.080	3	107912675	intron variant	A/G	snv			2
rs76838169	GJB2			13	20188974	missense variant	A/G	snv	4.4E-03	1.3E-03	1
rs374465594	IL2			4	122451789	missense variant	A/G	snv	4.1E-06	7.0E-06	1