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
rs515726172	TRPV4	0.925	0.120	12	109798774	missense variant	A/G	snv			2
rs587777512	LRBA ; MAB21L2	0.827	0.320	4	150583180	missense variant	C/G;T	snv			7
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs74315304	CTSK	0.925	0.120	1	150799228	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		3
rs749621890	EXTL3	0.851	0.040	8	28717012	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		7
rs751994699	ALPL	1.000	0.040	1	21563170	frameshift variant	GG/-	delins	4.0E-06	2.1E-05	1
rs759549373	DYNC2H1	0.925	0.080	11	103253342	missense variant	G/A;T	snv	6.0E-05; 4.0E-06		4
rs774568856	PGM3	0.882	0.200	6	83174481	missense variant	A/G	snv	1.7E-05	7.0E-06	4
rs77975504	TRPV4	0.827	0.280	12	109792695	missense variant	C/T	snv			6
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		25
rs864309531	SMARCAL1	0.882	0.400	2	216423668	stop gained	G/T	snv			5
rs869312694	MAGEL2	0.925	0.120	15	23644535	stop gained	C/A	snv			3
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs886043613	FGFR3	0.925	0.080	4	1801519	missense variant	C/T	snv			4
rs886044555	COL2A1	0.925	0.080	12	47985772	missense variant	C/T	snv			3