DisGeNET - a database of gene-disease associations

Disease: Atrophic scar

Source: ALL

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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
rs1057518871	COL5A1	0.925	0.120	9	134798410	frameshift variant	C/-	delins			10
rs1554726245	COL5A1 ; LOC101448202			9	134834982	inframe deletion	ACGCCGAGG/-	delins			4