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
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs875989802	DDX3X	0.882	0.080	X	41344278	missense variant	G/A	snv			6
rs869312826	GNB1	0.882	0.080	1	1787378	missense variant	C/T	snv			6
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			14
rs869312821	GNB1	0.882	0.120	1	1806515	missense variant	T/C	snv			7
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs864309676	STX7	0.851	0.120	6	132472372	missense variant	T/G	snv			7
rs864309661	WDR45	1.000	0.080	X	49077715	inframe deletion	CCA/-	delins			4
rs80338945	GJB2	0.695	0.440	13	20189313	missense variant	A/G	snv	6.4E-04	6.4E-04	32
rs80338758	MED12	0.790	0.400	X	71127367	missense variant	C/A;T	snv			12
rs797045141	HERC1	0.882	0.160	15	63696341	splice acceptor variant	T/G	snv			5
rs797044548	TBC1D24	0.882	0.280	16	2498253	missense variant	G/T	snv			9
rs797044525	DYRK1A ; LOC105372797	0.925		21	37490244	missense variant	T/G	snv			9
rs797044524	LOC105372797 ; DYRK1A	0.925		21	37486513	missense variant	A/T	snv			9
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs797044522	DYRK1A	0.925		21	37496119	frameshift variant	AGAT/-	delins			9
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8
rs797044520	DYRK1A	0.925		21	37505442	stop gained	C/T	snv			6
rs797044519	DYRK1A	0.925		21	37478285	stop gained	C/A;G;T	snv			9
rs796053353	STXBP1	0.882	0.120	9	127661192	missense variant	C/T	snv			6
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs786204858	PTEN	0.776	0.280	10	87933079	missense variant	A/G;T	snv			11
rs786202918	PTEN	0.925	0.080	10	87957951	stop gained	C/T	snv	4.0E-06		6
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del			7