DisGeNET - a database of gene-disease associations

List of associated variants

Disproportionate short-limb short stature, C1849937

Source: ALL

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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			45
rs1400419650	TRIP11	0.708	0.320	14	92005938	stop gained	C/A;T	snv	4.0E-06	1.4E-05	38
rs1555386022	TRIP11	0.708	0.320	14	92003418	splice donor variant	C/A	snv			38
rs143814221	GHR	0.882	0.160	5	42711306	missense variant	T/C	snv	2.7E-04	2.3E-04	8
rs1057518911	COL2A1			12	47976531	missense variant	C/G	snv			2