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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs797044519	DYRK1A	0.925	21	37478285	stop gained	C/A;G;T	snv			9
rs797044522	DYRK1A	0.925	21	37496119	frameshift variant	AGAT/-	delins			9
rs797044523	LOC105372797 ; DYRK1A	0.882	21	37480756	frameshift variant	-/A	delins			9
rs797044524	LOC105372797 ; DYRK1A	0.925	21	37486513	missense variant	A/T	snv			9
rs797044525	DYRK1A ; LOC105372797	0.925	21	37490244	missense variant	T/G	snv			9
rs1554402092	CAMK2B	1.000	7	44254555	missense variant	C/T	snv			8
rs797044521	LOC105372797 ; DYRK1A	0.925	21	37480768	frameshift variant	A/-	delins			8
rs1556009247	HDAC8	0.882	X	72490973	missense variant	A/C;T	snv			7
rs724159948	DYRK1A ; LOC105372797	1.000	21	37490273	stop gained	C/T	snv			7
rs724159953	DYRK1A	1.000	21	37505352	stop gained	C/T	snv			7
rs113331868	CAMK2A		5	150228191	splice donor variant	C/A;T	snv			6
rs724159951	DYRK1A		21	37493101	missense variant	T/C	snv			6
rs724159952	LOC105372797 ; DYRK1A		21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797		21	37490353	frameshift variant	-/A	delins			6
rs724159955	DYRK1A	1.000	21	37512002	missense variant	C/A	snv			6
rs724159956	DYRK1A		21	37496249	frameshift variant	-/G	delins			6
rs797044520	DYRK1A	0.925	21	37505442	stop gained	C/T	snv			6
rs1189909394	KCNK4-TEX40 ; KCNK4		11	64298178	missense variant	G/A;C	snv		7.0E-06	5
rs1256028809	RTTN	1.000	18	70030114	splice region variant	A/T	snv	4.0E-06		5
rs144900171	SYT1	0.925	12	79448968	missense variant	C/G;T	snv	1.3E-04	6.2E-04	5
rs1553196096	CDC42		1	22086463	missense variant	G/A	snv			5
rs1565369746	KCNK4-TEX40 ; KCNK4		11	64297507	missense variant	C/A	snv			5
rs1565922388	SYT1	0.925	12	79353599	missense variant	T/A	snv			5
rs1565922395	SYT1	0.925	12	79353602	missense variant	A/G	snv			5
rs1565962725	SYT1	0.925	12	79448953	missense variant	C/A	snv			5