DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Congenital cataract ×

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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
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
rs864309688	GJA8	0.882	0.200	1	147908089	missense variant	G/C	snv		7.0E-06	2
rs864309703	GJA8	1.000	0.200	1	147908106	missense variant	G/A;C;T	snv			2
rs1114167309	GJA8	1.000	0.200	1	147908028	missense variant	T/C	snv			1
rs1114167310	GJA8 ; LOC105371229	1.000	0.200	1	147908439	missense variant	G/A	snv			1
rs121434643	GJA8	0.851	0.200	1	147908094	missense variant	G/A;C	snv			1
rs80358201	GJA8	0.925	0.200	1	147908097	missense variant	G/A	snv			1
rs864309677	GJA8	1.000	0.200	1	147908074	missense variant	C/T	snv			1
rs864309684	GJA8	1.000	0.200	1	147908040	frameshift variant	-/T	delins			1
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv			14
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
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs864309531	SMARCAL1	0.882	0.400	2	216423668	stop gained	G/T	snv			5
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		3
rs28931605	LOC100507443 ; CRYGD	0.807	0.200	2	208124294	missense variant	G/A;T	snv	4.2E-06; 1.3E-05		2
rs137853924	LOC100507443 ; CRYGC	0.851	0.200	2	208128343	missense variant	C/A;T	snv			1
rs139353014	CRYGA	1.000	0.200	2	208163217	missense variant	C/T	snv	3.9E-03	2.3E-03	1
rs398122944	LOC100507443 ; CRYGC	0.851	0.200	2	208128257	stop gained	C/G;T	snv			1
rs864309689	CRYGC ; LOC100507443	1.000	0.200	2	208128399	frameshift variant	GG/A	delins			1
rs864309701	CRYGD ; LOC100507443	1.000	0.200	2	208121749	frameshift variant	-/C	delins			1
rs1114167312	CRYGS	1.000	0.200	3	186539588	missense variant	AG/TT	mnv			1
rs79006549	NECTIN3	1.000	0.200	3	111122207	missense variant	A/C;G	snv	1.9E-03		1
rs878853162	TUBB	0.851	0.320	6	30723724	missense variant	C/T	snv			4