DisGeNET - a database of gene-disease associations

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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	Num. diseases
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins		45
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