DisGeNET - a database of gene-disease associations

List of associated variants

Hypochondroplasia (disorder), C0410529

Source: INFERRED ×

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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
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	38
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			35
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		30
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		22
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		17
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			16
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			15
rs121913116	FGFR3	0.763	0.360	4	1799395	missense variant	C/T	snv			9
rs78311289	FGFR3	0.689	0.440	4	1806162	missense variant	A/C;G	snv	4.0E-06		9
rs2075290	ZPR1	0.882	0.160	11	116782580	intron variant	C/G;T	snv			8
rs10790162	BUD13	0.882	0.160	11	116768388	intron variant	A/G;T	snv		0.93	4
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv			4
rs10889332	DOCK7	1.000	0.120	1	62485187	3 prime UTR variant	C/T	snv		0.39	2
rs121913114	FGFR3	0.925	0.120	4	1801930	missense variant	A/G;T	snv	4.0E-06		2
rs121913115	FGFR3	1.000	0.120	4	1801928	missense variant	A/G	snv			2
rs28928868	FGFR3	0.925	0.120	4	1806164	missense variant	G/C;T	snv	4.0E-06		2
rs4846913	GALNT2	1.000	0.120	1	230158968	intron variant	C/A;T	snv			2
rs11206517	PCSK9	1.000	0.120	1	55060755	intron variant	T/C;G	snv			2
rs869025672	FGFR1	0.925	0.320	8	38414872	missense variant	A/C;G	snv	8.0E-06		1
rs1057520029	FGFR2	0.925	0.120	10	121488003	missense variant	T/A	snv			1
rs587778769	FGFR3	1.000	0.120	4	1799488	missense variant	A/T	snv			1
rs587778773	FGFR3	1.000	0.120	4	1801886	missense variant	C/T	snv	4.1E-06		1
rs587778775	FGFR3	1.000	0.120	4	1803785	missense variant	G/A;T	snv			1
rs587778776	FGFR3	1.000	0.120	4	1804396	missense variant	T/A;G	snv	1.2E-05		1
rs587778801	FGFR3	1.000	0.120	4	1801518	synonymous variant	C/T	snv			1