DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Seizures

Source: INFERRED ×

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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
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
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			11
rs387907329	WDR45 ; PRAF2	0.827	0.200	X	49075573	stop gained	G/A;T	snv	5.5E-06		10
rs1064797103	OTUD6B	0.827	0.280	8	91078597	missense variant	A/G	snv			9
rs797044523	LOC105372797 ; DYRK1A	0.882		21	37480756	frameshift variant	-/A	delins			9
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			8
rs869320713	LOC107984190 ; ZMYND11	0.851	0.120	10	248370	missense variant	G/A	snv			6
rs864309508	SNHG14 ; UBE3A	0.925	0.080	15	25356778	frameshift variant	CA/-	delins			4