DisGeNET - a database of gene-disease associations

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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
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		49
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			45
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		31
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			21
rs28931615	FGFR3	0.732	0.240	4	1804426	missense variant	C/A;T	snv			13
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs121913479	FGFR3	0.763	0.280	4	1804362	missense variant	G/A;T	snv	4.0E-06		10
rs121913116	FGFR3	0.763	0.360	4	1799395	missense variant	C/T	snv			9
rs1211533350	FGFR3	0.827	0.120	4	1805638	synonymous variant	C/A	snv	4.0E-06	7.0E-06	5
rs121913114	FGFR3	0.925	0.120	4	1801930	missense variant	A/G;T	snv	4.0E-06		2
rs75790268	FGFR3	0.925	0.120	4	1804377	missense variant	G/T	snv			2
rs770873375	GRB10	0.925	0.080	7	50612776	missense variant	T/C	snv	2.4E-05		2
rs144478519	IL36RN	0.925	0.120	2	113062547	stop gained	C/A;T	snv	4.0E-06; 2.9E-03		2
rs756254503	SPARC	0.925	0.120	5	151669740	missense variant	G/C	snv	4.0E-06		2
rs12822	BRD2	1.000	0.080	6	32977925	stop gained	G/A;T	snv		1.5E-05	1
rs1397150560	BRD2	1.000	0.080	6	32978186	missense variant	A/G	snv	4.1E-06		1
rs751731391	FGFR2	1.000	0.080	10	121500901	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs267608572	MECP2	1.000	0.080	X	154030690	missense variant	C/T	snv	3.5E-04	2.2E-04	1
rs776165919	UTRN	1.000	0.080	6	144437643	missense variant	G/A	snv	8.8E-05		1