DisGeNET - a database of gene-disease associations

List of shared variants

Achondroplasia, C0001080

Disease: Craniofacial Dysostosis

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
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13