DisGeNET - a database of gene-disease associations

List of shared variants

Pseudoxanthoma Elasticum, C0033847

Disease: Nevus elasticus

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
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	14
rs72650699	ABCC6	0.851	0.280	16	16202045	stop gained	G/A	snv	4.8E-05	1.8E-04	12
rs72650700	ABCC6	0.827	0.240	16	16190247	stop gained	G/A;T	snv	4.4E-05; 4.0E-06		12