DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Global developmental delay

Source: CLINVAR ×

Results per page

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
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		19
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs372949028	TANGO2	0.827	0.240	22	20061684	splice donor variant	G/A;C	snv	7.1E-05	5.6E-05	13
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs375002796	MDH2	0.851	0.160	7	76058047	missense variant	C/T	snv	5.2E-05	2.8E-05	7
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	4
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs377619533	ASXL3	1.000		18	33743312	stop gained	C/A;T	snv	2.8E-05		5
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs778899140	PDE10A	0.925		6	165450268	missense variant	T/C	snv	4.0E-06		3
rs750371878	HACE1	0.925		6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs587777623	DEAF1	0.882	0.120	11	686986	missense variant	G/A	snv	4.0E-06		5
rs794727792	STXBP1	0.827	0.120	9	127661140	stop gained	C/A;T	snv	4.0E-06		8
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1057516033	KAT6B	0.807	0.400	10	75025250	splice donor variant	G/A	snv			9
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs1057518786	SYNGAP1	1.000		6	33441374	splice region variant	G/A	snv			5
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			14
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs1057519444	SYN3	0.925	0.120	22	32518208	missense variant	GG/AA	mnv			5