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
rs886041125	ANKRD11	0.807	0.440	16	89284635	frameshift variant	GTTTT/-	delins		7.0E-06	12
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			11
rs121912823	CHAT	0.851	0.280	10	49627681	missense variant	T/C	snv	4.0E-06		6
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
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs201217593	DMD	0.790	0.200	X	31177947	stop gained	C/T	snv	2.2E-05	2.9E-05	8
rs587776917	ECEL1	0.776	0.200	2	232485937	stop gained	-/T	delins			13
rs79184941	FGFR2	0.617	0.600	10	121520163	missense variant	G/A;C	snv	5.6E-05; 4.0E-06		41
rs77543610	FGFR2	0.667	0.560	10	121520160	missense variant	G/C	snv			28
rs1554700718	HNRNPK	0.658	0.360	9	83975540	non coding transcript exon variant	T/C	snv			59
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs863224880	IGHMBP2	0.925	0.160	11	68906074	stop gained	G/A	snv			7
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs77078070	KLHL7	0.742	0.280	7	23165737	stop gained	C/T	snv	1.2E-05	1.4E-05	26
rs727503109	KRAS	0.752	0.320	12	25245277	missense variant	T/C	snv			17
rs121913528	KRAS	0.851	0.160	12	25227349	missense variant	C/A;T	snv			12
rs140614802	LOC107984670 ; ADSS1	0.851	0.040	14	104741231	missense variant	G/A	snv	3.4E-05	2.8E-05	10
rs1555247672	MED13L	0.827	0.200	12	116007542	stop gained	G/A	snv			14
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
rs758026634	MRPL43 ; TWNK	0.827	0.240	10	100989280	missense variant	G/A;C	snv	2.0E-05		5
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48