DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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
rs1561892336	CUL7 ; KLC4	0.807	0.200	6	43050050	stop gained	C/T	snv			13
rs760929207	OBSL1	0.925	0.200	2	219568050	splice donor variant	ACCTTTGACTG/-	delins	8.1E-06	7.0E-06	12
rs1561873941	CUL7	0.925	0.200	6	43040335	frameshift variant	T/-	del			10