DisGeNET - a database of gene-disease associations

Disease: Long face

Source: ALL

Results per page

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
rs1555727493	KMT2B	0.742	0.480	19	35718020	frameshift variant	-/GGCGGGCGGCGGC	delins			46