DisGeNET - a database of gene-disease associations

List of associated variants

Global developmental delay, C0557874

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
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs886039773	SON	0.925	0.120	21	33554982	frameshift variant	TTAG/-	delins			3
rs1447313633	ZNF142	1.000		2	218649090	frameshift variant	TT/-	del			4
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs1554641549	SCRIB ; PUF60	0.925	0.080	8	143816613	frameshift variant	TGGCCTTATGA/-	delins			3
rs1057516037	HDAC8	0.925		X	72464626	protein altering variant	TGGAG/AC	delins			4
rs1555652383	BPTF	0.807	0.160	17	67912720	frameshift variant	TG/-	delins			13
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1057519521	EBF3	0.851	0.120	10	129963375	frameshift variant	TCTC/-	del			8
rs727503773	SMC1A	0.882	0.160	X	53412950	inframe deletion	TCT/-	delins			7
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins			6
rs775394591	FREM2	0.851	0.120	13	38784727	inframe deletion	TCT/-	delins	2.8E-05		5
rs587783000	PURA	0.925	0.080	5	140114444	inframe deletion	TCG/-	del			5
rs1569548274	MECP2	0.701	0.520	X	154030553	splice acceptor variant	TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/-	delins			43
rs1085308055	PTEN	0.882	0.120	10	87952240	frameshift variant	TCAGT/-	delins			4
rs587782992	PURA	0.882	0.080	5	140114483	frameshift variant	TC/-;TCTC	delins			5
rs1553544133	SATB2	0.851	0.200	2	199308845	frameshift variant	TC/-	delins			6
rs1553920383	PPP3CA	0.925		4	101032350	frameshift variant	TC/-	delins			3
rs730882217	CPLANE1	0.925		5	37153962	frameshift variant	TC/-	del			2
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs797044525	DYRK1A ; LOC105372797	0.925		21	37490244	missense variant	T/G	snv			9
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs768663992	CLUAP1	0.882	0.160	16	3508407	missense variant	T/G	snv	1.3E-05	4.2E-05	5