DisGeNET - a database of gene-disease associations

Disease: Micrognathism

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
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs137854466	FBN1	0.724	0.320	15	48411280	stop gained	G/A;C	snv	4.0E-05; 8.0E-06		23
rs1553370918	MYCN	0.851	0.360	2	15945602	frameshift variant	TG/-	delins			6