DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Multiple congenital anomalies ×

Variants associated to the Gene: KMT2D ×

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
rs587783685	KMT2D	0.925	0.120	12	49032113	stop gained	G/A	snv			5
rs1555184787	KMT2D	1.000		12	49022591	frameshift variant	-/G	delins			2
rs1555187440	KMT2D	1.000		12	49031293	frameshift variant	TT/-	del			2
rs1555188623	KMT2D	1.000		12	49033147	frameshift variant	-/AGCCTGTGTCC	delins			2
rs1555194443	KMT2D	1.000		12	49044766	frameshift variant	G/-	delins			2
rs574622908	KMT2D	1.000		12	49046358	stop gained	G/C;T	snv	4.0E-06		2
rs794727688	KMT2D	1.000		12	49026431	missense variant	G/A	snv			2
rs1555188379	KMT2D			12	49032761	stop gained	G/A	snv			1