DisGeNET - a database of gene-disease associations

List of associated variants

Congenital cataract, C0009691

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
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
rs781939614	PEX11B	0.851	0.240	1	145916914	stop gained	G/A	snv	4.0E-06		11
rs781984979	PEX11B	0.851	0.240	1	145912346	stop gained	G/A	snv	4.0E-06		11
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv			10
rs114638163	MIPEP	0.827	0.240	13	23805994	stop gained	C/A;T	snv	4.0E-06; 1.3E-03		10
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs17563	BMP4	0.790	0.320	14	53950804	stop lost	A/G	snv	0.45	0.44	8
rs33912345	C14orf39 ; SIX6	0.807	0.200	14	60509819	missense variant	C/A;G	snv	0.53		7
rs74315439	CRYAA ; LOC107987300	0.790	0.200	21	43172104	missense variant	C/A;T	snv			7
rs864309532	PHF6	0.807	0.360	X	134393952	missense variant	G/A	snv			7
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
rs28931605	LOC100507443 ; CRYGD	0.807	0.200	2	208124294	missense variant	G/A;T	snv	4.2E-06; 1.3E-05		6
rs387907338	HSPB2-C11orf52 ; HSPB2 ; CRYAB	0.827	0.200	11	111911559	missense variant	G/A;T	snv			5
rs864309531	SMARCAL1	0.882	0.400	2	216423668	stop gained	G/T	snv			5
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs387907339	CRYAB	0.882	0.280	11	111908967	missense variant	C/A;G	snv			4
rs150857132	CRYGD ; LOC100507443	0.851	0.200	2	208124183	missense variant	C/A;T	snv	4.4E-04; 4.0E-06		4
rs730882219	GEMIN4	0.882	0.200	17	745591	missense variant	A/C;G	snv	4.1E-06; 1.2E-05		4
rs1114167307	GJA3	0.851	0.200	13	20143233	missense variant	G/A	snv			4
rs121434643	GJA8	0.851	0.200	1	147908094	missense variant	G/A;C	snv			4
rs137853924	LOC100507443 ; CRYGC	0.851	0.200	2	208128343	missense variant	C/A;T	snv			4
rs398122944	LOC100507443 ; CRYGC	0.851	0.200	2	208128257	stop gained	C/G;T	snv			4
rs1463326176	LOC100507443 ; CRYGD	0.851	0.200	2	208124291	frameshift variant	TGGG/-	del			4