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
rs1555458413	PKD1	0.925	0.120	16	2116010	missense variant	G/A	snv			2
rs777460677	PKD1 ; LOC105371049	0.925	0.120	16	2093917	inframe insertion	AGCCAC/-;AGCCACAGCCAC	delins			2