DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 ×

Variants associated to the Gene: COL2A1 ×

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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
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
rs121912891	COL2A1	0.882	0.080	12	47976052	missense variant	C/T	snv		7.0E-06	2
rs138498898	COL2A1	1.000	0.080	12	47974258	missense variant	G/A	snv	1.6E-04	4.9E-05	1
rs387906558	COL2A1 ; LOC105369752	1.000	0.080	12	47982892	missense variant	C/T	snv			1