DisGeNET - a database of gene-disease associations

List of associated variants

CATARACT 2, MULTIPLE TYPES, C4721890

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
rs587778872	CRYGC ; LOC100507443	0.807	0.200	2	208128231	missense variant	G/A;C	snv	8.0E-06		6
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
rs398122392	CRYGC ; LOC100507443	0.882	0.040	2	208128258	stop gained	C/A;G;T	snv	2.4E-05; 8.0E-06		3
rs104893618	LOC100507443 ; CRYGC	0.925		2	208129680	missense variant	T/G	snv			2
rs28931604	LOC100507443 ; CRYGC	0.925	0.200	2	208128226	missense variant	G/A	snv	1.6E-03	1.8E-04	2