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
rs751994699	ALPL	1.000	0.040	1	21563170	frameshift variant	GG/-	delins	4.0E-06	2.1E-05	1
rs1209546147	COL2A1 ; LOC105369752	1.000	0.040	12	47980597	missense variant	C/T	snv			1
rs515726153	TRPV4	1.000	0.040	12	109796638	missense variant	T/C	snv			1
rs515726154	TRPV4	1.000	0.040	12	109794406	inframe deletion	AAG/-	delins			1
rs515726155	TRPV4	1.000	0.040	12	109793945	inframe insertion	-/GGA	delins			1
rs515726169	TRPV4	1.000	0.040	12	109800754	missense variant	C/G	snv			1
rs1057516230	ALPL	0.925	0.080	1	21554124	frameshift variant	AACT/-	delins			2
rs1057518967	COL1A2	1.000	0.040	7	94423102	missense variant	G/A	snv			2
rs369091875	DCHS1	0.925	0.240	11	6633485	missense variant	C/G;T	snv	1.1E-03		2
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