DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Achondrogenesis type 2 ×

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
rs121912878	COL2A1	1.000	0.080	12	47978389	missense variant	C/T	snv			1
rs121912888	COL2A1	1.000	0.080	12	47985946	missense variant	C/T	snv			1
rs121912899	COL2A1	1.000	0.080	12	47985771	missense variant	C/A	snv			1
rs1555165335	COL2A1	1.000	0.080	12	47978042	inframe deletion	CACGGGGCCAGGAGGACC/-	delins			1
rs1555166729	COL2A1	1.000	0.080	12	47983699	missense variant	C/T	snv			1
rs1565681966	COL2A1	1.000	0.080	12	47985726	splice donor variant	A/C	snv			1
rs868417981	COL2A1	1.000	0.080	12	47986343	missense variant	C/A;T	snv			1
rs121912879	COL2A1 ; LOC105369752	0.925	0.080	12	47980017	missense variant	C/G	snv			1