DisGeNET - a database of gene-disease associations

List of associated variants

Dyslexia, C0476254

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
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs397514679	SYN1	0.790	0.200	X	47574321	stop gained	G/A	snv			9
rs10774547		0.925	0.120	12	120424913	intergenic variant	T/C	snv		0.39	3
rs59197085	CCDC136	0.925	0.120	7	128820702	intron variant	G/A	snv		9.9E-02	3
rs1711745	INIP	0.925	0.120	9	112690629	intron variant	C/A	snv		0.13	3
rs11855415	PCSK6 ; PCSK6-AS1	1.000	0.120	15	101334918	intron variant	A/T	snv		0.80	3
rs9313548		0.925	0.120	5	171534296	TF binding site variant	C/T	snv		0.56	2
rs2274305	DCDC2	0.925	0.120	6	24290975	missense variant	T/C	snv	0.65	0.51	2
rs4599626	DCDC2	0.925	0.120	6	24341129	intron variant	C/A	snv		0.33	2
rs6456593	DCDC2	0.925	0.120	6	24174101	3 prime UTR variant	C/G	snv		0.34	2
rs6922023	DCDC2	0.925	0.120	6	24347889	intron variant	G/A	snv		0.22	2
rs9467075	DCDC2	0.925	0.120	6	24205008	synonymous variant	G/A	snv	0.13	0.14	2
rs57809907	DNAAF4 ; DNAAF4-CCPG1	0.925	0.120	15	55430684	stop gained	C/A	snv	0.10	0.18	2
rs12533005	FOXP2	0.925	0.120	7	114416000	intron variant	G/C	snv		0.36	2
rs6935076	KIAA0319	0.925	0.120	6	24644094	intron variant	C/T	snv		0.30	2
rs133885	MYO18B	1.000	0.120	22	25763322	missense variant	G/A;C	snv	0.55		2
rs7182874	PCSK6	1.000	0.120	15	101325267	intron variant	T/C	snv		0.71	2
rs5995177	RBFOX2	0.925	0.120	22	35913505	intron variant	G/A;C	snv			2
rs362746	RELN ; LOC105375435	0.925	0.120	7	103539148	synonymous variant	A/G	snv	3.8E-02	2.1E-02	2
rs9461045		1.000	0.120	6	24648833	upstream gene variant	C/T	snv		0.21	1
rs807701	DCDC2	1.000	0.120	6	24273563	intron variant	G/A	snv		0.55	1
rs17819126	DNAAF4 ; DNAAF4-CCPG1	1.000	0.120	15	55497712	missense variant	C/A;T	snv	4.2E-06; 4.7E-02		1
rs3743205	DNAAF4 ; DNAAF4-CCPG1	1.000	0.120	15	55498332	5 prime UTR variant	C/A;G;T	snv	1.3E-05; 4.2E-06; 7.2E-02		1
rs600753	DNAAF4 ; DNAAF4-CCPG1	1.000	0.120	15	55466995	missense variant	T/C	snv	0.57	0.48	1