DisGeNET - a database of gene-disease associations

List of associated variants

Congenital heart block, C0149530

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
rs17408553	HLA-C ; HLA-B	0.925	0.080	6	31271630	missense variant	G/A;T	snv	0.37		2
rs190589393	KIR3DL1 ; KIR3DS1 ; KIR2DS4	0.925	0.080	19	54818487	missense variant	C/A	snv	1.7E-05	4.2E-05	2