DisGeNET - a database of gene-disease associations

List of associated variants

Legg-Calve-Perthes Disease, C0023234

Source: CURATED ×

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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
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06		21
rs121912893	COL2A1	0.708	0.400	12	47983721	stop gained	G/A;T	snv			15
rs121912874	COL2A1	0.716	0.400	12	47978329	missense variant	G/A	snv			14
rs794727261	COL2A1	0.716	0.400	12	47999953	stop gained	G/T	snv			14
rs281864980	GNPTAB	0.851	0.160	12	101766189	missense variant	C/T	snv	1.2E-05	7.0E-06	4
rs121912891	COL2A1	0.882	0.080	12	47976052	missense variant	C/T	snv		7.0E-06	2
rs1193507525	COL2A1 ; LOC105369752	0.925	0.080	12	47980616	missense variant	C/T	snv			1