DisGeNET - a database of gene-disease associations

List of associated variants

Poor school performance, C1843367

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
rs1563183492	AUTS2	0.708	0.520	7	70766248	missense variant	C/T	snv			32
rs549625604	BBS10	0.752	0.280	12	76347713	frameshift variant	-/A	delins		6.0E-04	13
rs768933093	BBS10	0.807	0.240	12	76348214	missense variant	G/A	snv	4.8E-05	4.9E-05	10
rs121918327	BBS12	0.776	0.240	4	122742955	stop gained	C/T	snv	2.8E-05	1.4E-05	12
rs113624356	BBS1 ; ZDHHC24	0.724	0.400	11	66526181	missense variant	T/G	snv	1.5E-03	2.1E-03	22
rs147030232	BBS2	0.827	0.160	16	56501014	stop gained	G/A;C	snv	2.0E-05; 4.0E-06		8
rs1558519731	BCL11A	0.925		2	60546204	missense variant	C/G	snv			4
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1555693714	BPTF	0.882	0.120	17	67975933	stop gained	A/T	snv			5
rs397507478	BRAF	0.790	0.440	7	140777014	missense variant	C/A	snv			12
rs370270828	BRF1	0.882	0.160	14	105241292	missense variant	G/A	snv	8.0E-06	2.8E-05	7
rs373957300	BRF1	0.882	0.160	14	105228832	missense variant	G/A	snv	1.6E-05	2.8E-05	7
rs606231416	BRF1	0.882	0.160	14	105241282	missense variant	G/A	snv	8.1E-06		7
rs606231450	BRF1	0.882	0.160	14	105226674	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		7
rs886041090	BRPF1	1.000		3	9739449	frameshift variant	TG/-	delins			2
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs752450983	C19orf12	0.882		19	29702977	missense variant	C/A;G;T	snv	1.2E-05; 7.2E-05; 1.2E-05		4
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del			7
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs1554121875	CAMK2A	0.882	0.040	5	150250281	missense variant	T/C	snv			7