DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Muscle hypotonia

Source: INFERRED ×

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
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs137852832	CEP290	0.716	0.280	12	88077263	stop gained	C/A	snv	9.5E-05	6.3E-05	17
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			16
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs863225045	ALDH18A1	0.790	0.360	10	95637327	missense variant	C/A;T	snv			15
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs138632121	THOC6 ; HCFC1R1	0.776	0.400	16	3026140	missense variant	T/A	snv	1.7E-04	2.0E-04	13
rs200426926	THOC6 ; BICDL2	0.776	0.400	16	3027379	missense variant	G/A;T	snv	1.8E-04; 4.0E-06		13
rs869312824	GNB1	0.827	0.200	1	1804565	missense variant	A/G	snv			13
rs1554386687	CAMK2B	0.882	0.040	7	44242328	missense variant	C/T	snv			12
rs926027867	CAMK2A	0.882	0.040	5	150251808	missense variant	G/A;T	snv			12
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs1567010427	DYNC1H1	0.882		14	102010824	missense variant	G/A	snv			11
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			11
rs1555883505	EEF1A2	0.827	0.160	20	63490712	missense variant	G/A	snv			10
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs1287121256	CAMK2A	0.882	0.040	5	150256777	missense variant	C/G;T	snv		7.0E-06	9
rs1554122526	CAMK2A	0.882	0.040	5	150256811	missense variant	A/G	snv			9
rs386834070	VPS13B	0.851	0.360	8	99134644	stop gained	C/T	snv			9
rs869312823	GNB1	0.882	0.080	1	1806509	missense variant	T/C	snv			9
rs772037717	FBXL4	0.882	0.080	6	98875675	missense variant	A/G	snv	1.2E-05	1.4E-05	8