DisGeNET - a database of gene-disease associations

List of shared variants

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder), C1853710

Disease: Spondylometaphyseal dysplasia, Kozlowski type

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
rs267607144	TRPV4	0.716	0.360	12	109800665	missense variant	C/T	snv			17
rs77975504	TRPV4	0.827	0.280	12	109792695	missense variant	C/T	snv			6
rs267607148	TRPV4	0.882	0.120	12	109800639	missense variant	C/T	snv			4