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
rs61750420	PEX1	0.689	0.480	7	92501562	missense variant	C/T	snv	3.2E-04	3.5E-04	52
rs1554781700	COL5A1	0.851	0.240	9	134701287	missense variant	G/T	snv			12
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10