DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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	Num. diseases
rs587778779	CYP27A1	0.807	0.240	2	218814379	splice acceptor variant	G/A;T	snv		14
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04	10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv		10