DisGeNET - a database of gene-disease associations

List of associated variants

Orbital separation excessive, C0020534

Source: ALL

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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
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs875989803	DDX3X	0.827	0.200	X	41343249	stop gained	G/T	snv			15
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs1555932766	USP9X	0.882	0.080	X	41210540	stop gained	C/T	snv			9
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs61752129	PEX26	0.776	0.240	22	18078405	frameshift variant	C/-;CC	delins			14
rs1569167586	POLR2F ; SOX10	0.851	0.160	22	37973687	frameshift variant	AGTAG/-	delins			9
rs1057516030	LOC105372797 ; DYRK1A	0.807	0.280	21	37480785	stop gained	-/A	delins			14
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs749203329	MLLT1	0.882	0.080	19	6213787	missense variant	C/T	snv	2.0E-05	1.4E-05	7
rs387906819	GATA6	0.882	0.120	18	22181517	missense variant	G/A	snv			6
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs1114167291	ANKRD11	0.790	0.280	16	89281225	stop gained	C/A	snv			10
rs778139192	KIF7 ; TICRR	0.776	0.360	15	89629561	stop gained	G/A;T	snv	4.1E-06; 7.3E-05		14
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs797045141	HERC1	0.882	0.160	15	63696341	splice acceptor variant	T/G	snv			5
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31