DisGeNET - a database of gene-disease associations

List of associated variants

Blepharoptosis, C0005745

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
rs672601334	RIT1	0.752	0.400	1	155904798	missense variant	G/C	snv			17
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			26
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		15
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs200473652	UNC80	0.807	0.200	2	209819105	missense variant	G/C	snv	1.4E-03	1.6E-03	7
rs886041094	UNC80	0.807	0.200	2	209941379	missense variant	G/A	snv	1.9E-05	2.1E-05	7
rs1057518957	CHRND	1.000	0.040	2	232535143	missense variant	G/T	snv			4
rs1057518958	CHRND	1.000	0.040	2	232531353	frameshift variant	T/-	del			4
rs1559931177	QRICH1	0.827	0.120	3	49047207	stop gained	G/A	snv			34
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs1060503383	SYNGAP1	0.882	0.200	6	33441318	stop gained	C/T	snv			14
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		32
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			6
rs1554442015	TWIST1	0.851	0.120	7	19116970	missense variant	G/C	snv			5
rs1563686762	RAD21 ; UTP23	0.790	0.280	8	116847620	inframe deletion	GTT/-	delins			16