DisGeNET - a database of gene-disease associations

List of associated variants

Spondyloperipheral dysplasia short ulna, C0796173

Source: CLINVAR ×

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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
rs121912880	COL2A1	0.882	0.080	12	47986353	missense variant	C/A;T	snv			3
rs121912886	COL2A1	0.925	0.080	12	47974090	missense variant	G/A;T	snv	8.0E-05		2
rs121912889	COL2A1	0.851	0.160	12	47974234	missense variant	T/C	snv			2
rs121912890	COL2A1	1.000	0.080	12	47974092	stop gained	G/T	snv			1
rs1565664375	COL2A1	1.000	0.080	12	47973534	frameshift variant	C/-	delins			1