DisGeNET - a database of gene-disease associations

List of shared variants

Congenital Abnormality, C0000768

Disease: Dwarfism

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
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs121909173	HESX1	0.851	0.240	3	57199901	missense variant	C/G	snv	2.8E-05	1.4E-05	5