DisGeNET - a database of gene-disease associations

List of associated variants

Poor school performance, C1843367

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
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
rs724159956	DYRK1A	21	37496249	frameshift variant	-/G	delins			6
rs1189909394	KCNK4-TEX40 ; KCNK4	11	64298178	missense variant	G/A;C	snv		7.0E-06	5
rs1553196096	CDC42	1	22086463	missense variant	G/A	snv			5
rs1565369746	KCNK4-TEX40 ; KCNK4	11	64297507	missense variant	C/A	snv			5
rs1060499737	DHX37	12	124968903	missense variant	G/T	snv			3
rs1060499740	CINP	14	102348559	stop lost	A/C	snv			3
rs1461148946	FLNA	X	154354979	missense variant	A/C	snv		9.3E-06	3
rs1057518777	UBE3A ; SNHG14	15	25339239	splice acceptor variant	-/TGAGATGTAGGTA	delins			2
rs1057518800	GRIN2B	12	13567228	missense variant	C/T	snv			2
rs137939966	MYOCD	17	12752540	missense variant	A/G	snv	1.6E-04	8.4E-04	2
rs1568018697	RAC3	17	82032437	missense variant	C/T	snv			2
rs1568018920	RAC3	17	82032785	missense variant	A/T	snv			2
rs1568135082	ZNF407	18	74633832	inframe insertion	-/AGT	delins			2
rs1057518772	LOC105372721 ; KCNQ2	20	63433860	missense variant	A/C;G	snv			1
rs1057524031	NAA10 ; ARHGAP4	X	153932422	missense variant	G/A	snv			1
rs1135401779	ZNF292	6	87256692	frameshift variant	AAGA/-	delins			1
rs1553283831	HNRNPU	1	244863711	frameshift variant	-/G	delins			1
rs1554129040	PURA	5	140114334	frameshift variant	-/G	delins			1
rs1555906707	MSL3	X	11765481	missense variant	T/C	snv			1
rs1555906768	MSL3	X	11765594	stop gained	C/T	snv			1
rs1555906781	MSL3	X	11765622	frameshift variant	TG/-	delins			1