DisGeNET - a database of gene-disease associations

List of associated variants

SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE, C3159322

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
rs121912637	TRPV4	0.851	0.160	12	109784378	missense variant	G/A;C	snv			5
rs267607149	TRPV4	0.851	0.120	12	109784385	missense variant	C/T	snv			5
rs267607150	TRPV4	0.925	0.080	12	109792671	missense variant	T/C	snv			2
rs387906324	TRPV4	0.925	0.080	12	109808308	missense variant	C/T	snv			2