DisGeNET - a database of gene-disease associations

List of associated variants

Skeletal dysplasia, C0410528

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	Num. diseases
rs121912632	TRPV4	0.882	0.080	12	109792407	missense variant	C/T	snv		3
rs387906902	TRPV4	0.925	0.080	12	109793560	missense variant	G/C;T	snv	4.0E-06	3
rs387906906	TRPV4	0.925	0.120	12	109786827	missense variant	G/A	snv		3
rs387906907	TRPV4	0.925	0.120	12	109800645	missense variant	T/C	snv		3
rs397514474	TRPV4	0.925	0.120	12	109814565	missense variant	C/A	snv		3
rs886044555	COL2A1	0.925	0.080	12	47985772	missense variant	C/T	snv		3
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
rs121912636	TRPV4	0.925	0.120	12	109798775	missense variant	T/A;C	snv	4.0E-06	2
rs267607147	TRPV4	0.925	0.120	12	109784379	missense variant	G/A;C	snv		2
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
rs387906903	TRPV4	0.925	0.120	12	109803113	missense variant	T/C	snv		2
rs397514473	TRPV4	0.925	0.120	12	109814531	missense variant	G/A	snv		2
rs515726152	TRPV4	0.925	0.120	12	109798742	missense variant	C/A	snv		2
rs515726157	TRPV4	1.000	0.040	12	109792704	missense variant	T/C	snv		2
rs515726158	TRPV4	0.925	0.120	12	109792702	missense variant	A/G	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
rs515726161	TRPV4	0.925	0.120	12	109792664	missense variant	G/C	snv		2
rs515726162	TRPV4	0.925	0.120	12	109792403	missense variant	G/T	snv		2
rs515726163	TRPV4	0.925	0.120	12	109792401	missense variant	A/G	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