DisGeNET - a database of gene-disease associations

List of associated variants

Spondylometaphyseal dysplasia, Kozlowski type, C0265280

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
rs77975504	TRPV4	0.827	0.280	12	109792695	missense variant	C/T	snv			6
rs267607149	TRPV4	0.851	0.120	12	109784385	missense variant	C/T	snv			5
rs267607148	TRPV4	0.882	0.120	12	109800639	missense variant	C/T	snv			4
rs116571438	TRPV4	0.925	0.080	12	109788483	missense variant	G/A;T	snv	8.0E-06		2
rs121912634	TRPV4	0.925	0.080	12	109798768	missense variant	T/C	snv			2
rs121912635	TRPV4	0.925	0.080	12	109788462	missense variant	C/A	snv			2
rs515726159	TRPV4	0.925	0.080	12	109792689	missense variant	A/G	snv			2
rs515726160	TRPV4	0.925	0.080	12	109792678	missense variant	C/A	snv			2
rs515726164	TRPV4	0.925	0.080	12	109792379	missense variant	C/T	snv			2
rs515726165	TRPV4	0.925	0.080	12	109786716	missense variant	C/T	snv			2