DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Orbital separation excessive ×

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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
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11
rs1554496813	KMT2C	0.827	0.160	7	152177839	frameshift variant	-/G	delins			8
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs1554333853	CDK13	0.689	0.320	7	40046006	missense variant	A/G	snv			54
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			12
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs1569167586	POLR2F ; SOX10	0.851	0.160	22	37973687	frameshift variant	AGTAG/-	delins			9
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			6
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			24