DisGeNET - a database of gene-disease associations

List of shared variants

Achondroplasia, C0001080

Disease: Thanatophoric Dysplasia

Source: ALL

Results per page

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			45
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
rs121913479	FGFR3	0.763	0.280	4	1804362	missense variant	G/A;T	snv	4.0E-06		10
rs1211533350	FGFR3	0.827	0.120	4	1805638	synonymous variant	C/A	snv	4.0E-06	7.0E-06	5