DisGeNET - a database of gene-disease associations

List of associated variants

CATARACT, AUTOSOMAL DOMINANT, C1858679

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
rs74315439	CRYAA ; LOC107987300	0.790	0.200	21	43172104	missense variant	C/A;T	snv			7
rs397515624	CRYAA ; LOC107987300	0.851	0.040	21	43169133	missense variant	C/T	snv	4.0E-06		4
rs121912973	CRYAA ; LOC107987300	0.882	0.040	21	43172105	missense variant	G/A	snv			3
rs397515625	CRYAA ; LOC107987300	0.882	0.200	21	43169160	missense variant	C/A;T	snv	4.0E-06		3
rs74315441	CRYAA ; LOC107987300	0.882	0.040	21	43169244	missense variant	C/T	snv	8.0E-06		3
rs398122947	LOC107987300 ; CRYAA	0.882	0.040	21	43170619	missense variant	G/A	snv			3
rs864309693	MIP	0.882	0.200	12	56454517	missense variant	G/A	snv			3
rs397515623	CRYAA ; LOC107987300	0.925	0.200	21	43169259	missense variant	C/T	snv			2
rs397515626	CRYAA ; LOC107987300	0.925	0.200	21	43169161	missense variant	G/A	snv	1.2E-05		2
rs375713569	SDS	0.925	0.040	12	113398748	missense variant	G/A;C	snv	3.6E-05; 1.2E-05		2