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
rs1553200431	COL11A1	0.851	0.240	1	102912180	inframe deletion	CCTCACCAGATGGGCCAG/-	delins			8
rs1057524237	COL11A1	0.851	0.280	1	102915626	splice region variant	C/T	snv			7
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs797045141	HERC1	0.882	0.160	15	63696341	splice acceptor variant	T/G	snv			5
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
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
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs1554317931	GLI3	0.851	0.080	7	42045460	frameshift variant	G/-	delins			11
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11
rs1569167586	POLR2F ; SOX10	0.851	0.160	22	37973687	frameshift variant	AGTAG/-	delins			9
rs1554496813	KMT2C	0.827	0.160	7	152177839	frameshift variant	-/G	delins			8
rs1555380716	SLC12A6	0.882	0.120	15	34255385	frameshift variant	-/C	delins			5
rs1557194525	TAZ	1.000	0.120	X	154420961	frameshift variant	C/-	del			3
rs727503030	ELN	0.925	0.040	7	74054770	splice donor variant	G/A	snv	6.0E-05	6.3E-05	6
rs1276519904	H3-3A	0.645	0.520	1	226071445	missense variant	A/G	snv			63
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
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	47
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39