DisGeNET - a database of gene-disease associations

List of shared variants

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

Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)

Source: ALL

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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
rs267607143	TRPV4	0.851	0.080	12	109798823	missense variant	G/A	snv		7.0E-06	5
rs267607146	TRPV4	0.851	0.080	12	109800666	missense variant	G/A;T	snv		7.0E-06	5
rs387906904	TRPV4	0.851	0.080	12	109803009	missense variant	G/A	snv			5
rs397514494	TRPV4	0.925	0.080	12	109808298	missense variant	C/T	snv			3