DisGeNET - a database of gene-disease associations

List of associated variants

Spondyloepiphyseal dysplasia, congenita, C2745959

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	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
rs771866012	CHST3	0.882	0.080	10	72007522	missense variant	C/G;T	snv	4.2E-06; 4.2E-06	8
rs1316347883	CHST3	0.851	0.080	10	72007935	missense variant	G/A;C	snv	6.9E-06	4
rs121912880	COL2A1	0.882	0.080	12	47986353	missense variant	C/A;T	snv		4
rs886044555	COL2A1	0.925	0.080	12	47985772	missense variant	C/T	snv		3
rs1193507525	COL2A1 ; LOC105369752	0.925	0.080	12	47980616	missense variant	C/T	snv		3
rs121912886	COL2A1	0.925	0.080	12	47974090	missense variant	G/A;T	snv	8.0E-05	2
rs121912879	COL2A1 ; LOC105369752	0.925	0.080	12	47980017	missense variant	C/G	snv		2
rs121912867	LOC105369752 ; COL2A1	0.925	0.080	12	47982142	missense variant	C/T	snv		2
rs104894948	TRAPPC2	0.925	0.080	X	13716080	missense variant	A/G	snv		2
rs1215825701	COL2A1	1.000	0.080	12	47978605	missense variant	C/T	snv		1
rs121912870	COL2A1	1.000	0.080	12	47975971	missense variant	C/T	snv		1
rs121912883	COL2A1	1.000	0.080	12	47976043	missense variant	C/G	snv		1
rs1555164872	COL2A1	1.000	0.080	12	47975961	splice acceptor variant	ACAGCAGGGCCGGTTTCGCCTGATCGTCCACGGGGACCAGGAGGCCCAATGGGGCCAGGGATTCCATTAGCACCATCTTTGCCAGAGGGACCGACGGGGCCAGGAGGACCCTGCAAGAGAGAGAGGTCGTGAGGAAAGAGTGGTCACCACAGGGAAGGCTGGGGAGTCGCTGGGGCTGGGTAGGTGGCTGTCCTGATAGCACCAGCCACTCCGCCCCCAGTTCTTCACATGCTCAGTCATGGAACCCTAAGTTGGTCTCTATTTGGCCAAGAACCAGCAGGATAGCTCCATGGCTTGCCTACCCTCCTAAGCTCCTCTTTGTAAAATGCTGTTCTGTCTGACAGCGAGAGGCTGATTCATGTTTGTCTTACAGCCATTGTGGCCTCAGGCG/-	del		1
rs1555167783	COL2A1	1.000	0.080	12	47989236	missense variant	C/T	snv		1
rs1565664095	COL2A1	1.000	0.080	12	47973418	missense variant	A/G	snv		1
rs1565679062	COL2A1	1.000	0.080	12	47983410	missense variant	C/T	snv		1
rs864621973	COL2A1	1.000	0.080	12	47977128	stop gained	C/A;T	snv	4.1E-06	1
rs104894949	TRAPPC2	1.000	0.080	X	13714501	stop gained	G/T	snv		1
rs122460156	TRAPPC2	1.000	0.080	X	13714439	stop gained	G/A	snv		1
rs587776748	TRAPPC2	1.000	0.080	X	13719910	frameshift variant	AA/-	delins		1
rs587776749	TRAPPC2	1.000	0.080	X	13716580	frameshift variant	CA/-	delins		1
rs587776750	TRAPPC2	1.000	0.080	X	13716614	frameshift variant	AT/-	del		1