DisGeNET - a database of gene-disease associations

List of associated variants

Global developmental delay, C0557874

Source: ALL

Results per page

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
rs1567010427	DYNC1H1	0.882	14	102010824	missense variant	G/A	snv			11
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
rs1057519338	AMMECR1	0.882	X	110264571	stop gained	G/A	snv			8
rs797044521	LOC105372797 ; DYRK1A	0.925	21	37480768	frameshift variant	A/-	delins			8
rs1057518864	TCF4	0.925	18	55350409	splice acceptor variant	C/T	snv			7
rs1057518921	MED12	1.000	X	71132465	missense variant	G/A	snv			7
rs1555928716	RPS6KA3	0.925	X	20167669	stop gained	G/A	snv			7
rs797044526	DYRK1A ; LOC105372797	0.925	21	37490393	missense variant	C/T	snv			7
rs1057518770	SNHG14 ; UBE3A	1.000	15	25354536	missense variant	C/T	snv			6
rs587777585	VARS2	0.882	6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs797044520	DYRK1A	0.925	21	37505442	stop gained	C/T	snv			6
rs1057516038	KIAA0586	0.925	14	58444158	stop gained	C/A;T	snv			5
rs1057518786	SYNGAP1	1.000	6	33441374	splice region variant	G/A	snv			5
rs1057518821	SLC2A1	1.000	1	42930671	frameshift variant	-/C	delins			5
rs1135402758	NUP214	1.000	9	131199023	intron variant	T/-	delins			5
rs144900171	SYT1	0.925	12	79448968	missense variant	C/G;T	snv	1.3E-04	6.2E-04	5
rs1554776954	STXBP1	1.000	9	127661133	frameshift variant	A/-	delins			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
rs377619533	ASXL3	1.000	18	33743312	stop gained	C/A;T	snv	2.8E-05		5