DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Muscle hypotonia

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
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			13
rs587779766	AHDC1	0.851	0.200	1	27549742	frameshift variant	CA/-	delins			7
rs587779767	AHDC1	0.851	0.200	1	27549218	frameshift variant	G/-	delins			7
rs587779768	AHDC1	0.851	0.200	1	27549569	frameshift variant	G/-	delins			7
rs587776935	AKT3	0.827	0.120	1	243505296	missense variant	G/A	snv			7
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs387907144	ARID1B	0.716	0.600	6	157181056	stop gained	C/A;T	snv			34
rs782596945	ATP2B3	0.851	0.120	X	153580229	missense variant	G/A;T	snv	5.5E-06		8
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs81002885	BRCA2	0.827	0.280	13	32316529	splice donor variant	T/A;C;G	snv	4.0E-06		6
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1554385305	CAMK2B	0.925	0.040	7	44241784	splice acceptor variant	C/T	snv			7
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs768663992	CLUAP1	0.882	0.160	16	3508407	missense variant	T/G	snv	1.3E-05	4.2E-05	5