DisGeNET - a database of gene-disease associations

List of shared variants

Seizures, C0036572

Disease: Orbital separation excessive

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
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs587783446	CHD7	0.763	0.280	8	60850546	stop gained	C/T	snv			19
rs587784105	NSD1	0.732	0.440	5	177235863	stop gained	G/A	snv			19
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11
rs869312687	RIT1	0.925	0.080	1	155910695	missense variant	T/G	snv			8
rs1057524237	COL11A1	0.851	0.280	1	102915626	splice region variant	C/T	snv			7