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	AF GENOME	Num. diseases
rs397514473	TRPV4	0.925	0.120	12	109814531	missense variant	G/A	snv			2
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
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
rs886043613	FGFR3	0.925	0.080	4	1801519	missense variant	C/T	snv			4
rs121912632	TRPV4	0.882	0.080	12	109792407	missense variant	C/T	snv			3
rs181011657	DYNC2H1	0.882	0.120	11	103257719	stop gained	C/T	snv	6.8E-05	1.4E-04	3
rs886044555	COL2A1	0.925	0.080	12	47985772	missense variant	C/T	snv			3
rs387906324	TRPV4	0.925	0.080	12	109808308	missense variant	C/T	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
rs1209546147	COL2A1 ; LOC105369752	1.000	0.040	12	47980597	missense variant	C/T	snv			1
rs587777512	LRBA ; MAB21L2	0.827	0.320	4	150583180	missense variant	C/G;T	snv			7
rs749621890	EXTL3	0.851	0.040	8	28717012	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		7
rs369091875	DCHS1	0.925	0.240	11	6633485	missense variant	C/G;T	snv	1.1E-03		2
rs515726167	TRPV4	0.925	0.120	12	109803106	missense variant	C/G;T	snv	4.0E-06		2
rs515726169	TRPV4	1.000	0.040	12	109800754	missense variant	C/G	snv			1
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs121912633	TRPV4	0.790	0.240	12	109792396	missense variant	C/A;T	snv	4.0E-06		10
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs397514474	TRPV4	0.925	0.120	12	109814565	missense variant	C/A	snv			3