DisGeNET - a database of gene-disease associations

List of associated variants

CATARACT 5, MULTIPLE TYPES, C3888417

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
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv			31
rs28937573	HSF4	0.882	0.080	16	67165841	missense variant	C/T	snv			3
rs121909048	HSF4	1.000		16	67165827	missense variant	T/C	snv			1
rs121909049	HSF4	1.000		16	67164867	missense variant	C/A	snv			1
rs121909050	HSF4	1.000		16	67165742	missense variant	A/G	snv			1
rs1555549755	HSF4	1.000		16	67164900	frameshift variant	A/-	del			1
rs1567668570	HSF4	1.000		16	67165838	missense variant	C/T	snv			1
rs1456161420	HSF4 ; NOL3	1.000		16	67169277	splice acceptor variant	A/G	snv	2.0E-05		1