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
rs754279998	MKS1	0.776	0.360	17	58208153	inframe deletion	GAG/-	delins	2.0E-05	1.4E-05	10
rs1488635637	MKS1	0.827	0.360	17	58208003	splice acceptor variant	T/C;G	snv		7.0E-06	6