DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Gene: TLR2 ×

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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
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	97
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	30
rs4696480	TLR2	0.716	0.400	4	153685974	intron variant	T/A	snv		0.45	19
rs1898830	TLR2	0.807	0.280	4	153687301	intron variant	A/G	snv		0.30	10
rs5743704	TLR2	0.763	0.240	4	153704799	missense variant	C/A	snv	2.8E-02	2.8E-02	9
rs7656411	TLR2	0.790	0.320	4	153706503	downstream gene variant	T/G	snv		0.35	8
rs1816702	TLR2	0.827	0.120	4	153688371	non coding transcript exon variant	T/C	snv		0.79	6
rs11938228	TLR2	0.882	0.120	4	153700794	intron variant	C/A;T	snv			4
rs5743705	TLR2	0.882	0.200	4	153705028	synonymous variant	T/C	snv	1.4E-02	5.1E-03	3
rs1196547982	TLR2	0.925	0.120	4	153703650	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs111200466	TLR2	1.000	0.080	4	153684312	5 prime UTR variant	CGGCTGCTCGGCGTTCTCTCAGG/-	delins		0.17	2
rs773946331	TLR2	0.925	0.240	4	153702941	missense variant	G/A	snv	3.6E-05	3.5E-05	2
rs748086774	TLR2			4	153702929	missense variant	G/A;T	snv	1.2E-05; 1.2E-05		1