DisGeNET - a database of gene-disease associations

List of associated variants

Blepharoptosis, C0005745

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
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs1569146993	TCF20	0.851	0.320	22	42211700	frameshift variant	-/C	delins			5
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs368900406	MPV17	0.827	0.160	2	27312255	non coding transcript exon variant	A/C	snv	8.0E-06	2.1E-05	27
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11
rs730881014	RIT1	0.776	0.360	1	155904494	stop gained	A/C;G;T	snv			15
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	47
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		16
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			11
rs121913528	KRAS	0.851	0.160	12	25227349	missense variant	C/A;T	snv			12
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs140291094	STAC3	0.742	0.320	12	57244322	missense variant	C/G	snv	9.1E-05	3.8E-04	11
rs118192177	RYR1	0.851	0.160	19	38496283	missense variant	C/G;T	snv	2.0E-05		6
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs267607261	MPV17	0.807	0.280	2	27312753	stop gained	C/T	snv	8.0E-06		28
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			27
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs1060503383	SYNGAP1	0.882	0.200	6	33441318	stop gained	C/T	snv			14
rs201217593	DMD	0.790	0.200	X	31177947	stop gained	C/T	snv	2.2E-05	2.9E-05	8