DisGeNET - a database of gene-disease associations

List of associated variants

Orbital separation excessive, C0020534

Source: ALL

Results per page

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
rs398124401	SRD5A3	0.695	0.480	4	55346393	stop gained	G/A	snv	1.2E-04	2.8E-05	26
rs778139192	KIF7 ; TICRR	0.776	0.360	15	89629561	stop gained	G/A;T	snv	4.1E-06; 7.3E-05		14
rs727503030	ELN	0.925	0.040	7	74054770	splice donor variant	G/A	snv	6.0E-05	6.3E-05	6
rs149830411	KANSL1	0.827	0.360	17	46171276	stop gained	G/A	snv	5.2E-05	5.6E-05	15
rs142239530	STIM1	0.790	0.320	11	4091328	missense variant	C/G;T	snv	4.4E-05		24
rs749203329	MLLT1	0.882	0.080	19	6213787	missense variant	C/T	snv	2.0E-05	1.4E-05	7
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs1034395178	LZTR1	0.716	0.480	22	20996071	stop gained	C/A;T	snv	4.0E-06; 8.0E-06		33
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs368869806	PTCH1	0.614	0.480	9	95485875	splice acceptor variant	C/T	snv	4.0E-06	7.0E-06	97
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs74799832	RET	0.662	0.280	10	43121968	missense variant	T/C	snv	4.0E-06		33
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
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
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			39