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
rs515726165	TRPV4	0.925	0.080	12	109786716	missense variant	C/T	snv			2
rs515726166	TRPV4	1.000	0.040	12	109784362	frameshift variant	TCATTCTTGCCCGGGTC/-	delins			2
rs515726167	TRPV4	0.925	0.120	12	109803106	missense variant	C/G;T	snv	4.0E-06		2
rs515726171	TRPV4	0.925	0.120	12	109798883	missense variant	T/C	snv			2
rs515726172	TRPV4	0.925	0.120	12	109798774	missense variant	A/G	snv			2
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
rs774568856	PGM3	0.882	0.200	6	83174481	missense variant	A/G	snv	1.7E-05	7.0E-06	4
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs751994699	ALPL	1.000	0.040	1	21563170	frameshift variant	GG/-	delins	4.0E-06	2.1E-05	1
rs181011657	DYNC2H1	0.882	0.120	11	103257719	stop gained	C/T	snv	6.8E-05	1.4E-04	3