DisGeNET - a database of gene-disease associations

List of associated variants

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

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
rs121912633	TRPV4	0.790	0.240	12	109792396	missense variant	C/A;T	snv	4.0E-06		10
rs387906905	TRPV4	0.882	0.120	12	109798819	missense variant	C/T	snv			10
rs77975504	TRPV4	0.827	0.280	12	109792695	missense variant	C/T	snv			6
rs121912637	TRPV4	0.851	0.160	12	109784378	missense variant	G/A;C	snv			5
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
rs267607145	TRPV4	0.882	0.080	12	109798820	missense variant	G/A;T	snv			4
rs267607148	TRPV4	0.882	0.120	12	109800639	missense variant	C/T	snv			4
rs387906902	TRPV4	0.925	0.080	12	109793560	missense variant	G/C;T	snv	4.0E-06		3
rs397514494	TRPV4	0.925	0.080	12	109808298	missense variant	C/T	snv			3
rs1289139464	TRPV4	1.000	0.080	12	109802993	missense variant	C/A;T	snv			1