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	AF GENOME	Num. diseases
rs528302390	PKD1L1	0.776	0.120	7	47831214	splice donor variant	AC/-	delins	3.7E-04	5.0E-04	9
rs886037834	PKD1L1	0.827	0.160	7	47846960	missense variant	C/G	snv		7.0E-06	6