DisGeNET - a database of gene-disease associations

List of associated variants

CATSHL syndrome, C1864852

Source: UNIPROT ×

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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
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			4
rs121913482	FGFR3	0.630	0.680	4	1801837	missense variant	C/T	snv			4
rs121913483	FGFR3	0.649	0.560	4	1801841	missense variant	C/A;G;T	snv	4.2E-06; 1.3E-05		4
rs28931614	FGFR3	0.672	0.520	4	1804392	missense variant	G/A;C	snv			2
rs121913113	FGFR3	0.882	0.240	4	1806076	missense variant	G/A	snv			1
rs4647924	FGFR3	0.600	0.520	4	1801844	missense variant	C/A;G;T	snv	4.2E-06; 4.2E-06		1