DisGeNET - a database of gene-disease associations

Disease: Megacolon

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
rs1569167586	POLR2F ; SOX10	0.851	0.160	22	37973687	frameshift variant	AGTAG/-	delins			9