DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Muscle hypotonia

Source: ALL

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs387906702	SMC1A	0.807	0.200	X	53403635	missense variant	A/G	snv			16
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			13
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs147484110	CSTB	0.807	0.200	21	43774760	splice acceptor variant	C/G	snv	1.5E-04	2.7E-04	11
rs886039807	TMEM231	0.776	0.480	16	75541466	non coding transcript exon variant	A/G	snv	4.2E-06		11
rs121908119	WNT10A ; LOC107984111	0.763	0.200	2	218882368	stop gained	C/A	snv	6.2E-04	8.5E-04	10
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs775104326	CTNNB1	0.776	0.160	3	41224995	stop gained	C/A;T	snv	4.0E-06		10
rs104894621	PMP22	0.790	0.080	17	15239575	missense variant	G/A	snv			9
rs180177040	BRAF	0.790	0.360	7	140754187	missense variant	T/C;G	snv			9
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs180177042	BRAF	0.807	0.280	7	140749365	missense variant	A/C;T	snv			8
rs587776935	AKT3	0.827	0.120	1	243505296	missense variant	G/A	snv			7