DisGeNET - a database of gene-disease associations

List of associated variants

Hand, Foot and Mouth Disease, C0018572

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
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs10774671	OAS1	0.732	0.480	12	112919388	splice acceptor variant	G/A;C	snv	0.67		14
rs3853839	TLR7	0.752	0.480	X	12889539	3 prime UTR variant	C/G;T	snv			10
rs9722	S100B	0.776	0.200	21	46599326	3 prime UTR variant	G/A	snv	0.16; 2.4E-05	0.21	9
rs5743305	TLR3	0.807	0.200	4	186068179	upstream gene variant	T/A	snv		0.35	8
rs9695310	DDX58	0.851	0.120	9	32464137	intron variant	G/C	snv		0.52	4
rs179019	TLR7	0.882	0.160	X	12871850	intron variant	A/C;T	snv			3
rs11574129	VDR	0.882	0.160	12	47843520	3 prime UTR variant	A/G	snv		1.6E-02	3
rs908247294	CRP	1.000	0.040	1	159713626	missense variant	T/C	snv	4.0E-06		1
rs3739674	DDX58	1.000	0.040	9	32526235	upstream gene variant	G/C	snv		0.57	1
rs2843710	IFNAR1	1.000	0.040	21	33324402	upstream gene variant	C/A;G;T	snv			1
rs41284767	SCARB2	1.000	0.040	4	76174062	non coding transcript exon variant	C/T	snv		0.23	1