DisGeNET - a database of gene-disease associations

List of associated variants

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans, C2674173

Source: CLINVAR ×

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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
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
rs587779383	FGFR3	0.851	0.120	4	1806157	missense variant	A/C;G;T	snv			2