DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Ehlers-Danlos Syndrome, Type IV ×

Variants associated to the Gene: COL3A1 ×

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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
rs121912923	COL3A1	0.882	0.160	2	188996479	missense variant	G/A;C;T	snv		3
rs587779595	COL3A1	0.925	0.200	2	189005351	missense variant	G/A	snv		3
rs121912920	COL3A1	0.925	0.160	2	189002316	missense variant	G/A	snv		2
rs587779715	COL3A1	0.925	0.200	2	189008089	missense variant	G/C	snv		2
rs863224860	COL3A1	0.925	0.160	2	189010732	stop gained	C/T	snv		2
rs869312034	COL3A1	0.925	0.160	2	189006260	splice donor variant	G/A;T	snv		2
rs1559056438	MIR3606 ; COL3A1	0.925	0.200	2	188994727	missense variant	G/A	snv		2
rs587779692	MIR3606 ; COL3A1	0.925	0.240	2	188994297	missense variant	G/A	snv		2
rs1057521106	COL3A1	1.000	0.160	2	188991016	stop gained	C/A;T	snv	4.0E-06	1
rs1060500187	COL3A1	1.000	0.160	2	189010187	stop gained	G/A	snv		1
rs1060500193	COL3A1	1.000	0.160	2	189001425	missense variant	G/A	snv		1
rs1060500203	COL3A1	1.000	0.160	2	189007501	missense variant	G/T	snv		1
rs1085307896	COL3A1	1.000	0.160	2	189004072	missense variant	G/A	snv		1
rs111505097	COL3A1	1.000	0.160	2	189008943	missense variant	G/A;T	snv		1
rs111929073	COL3A1	1.000	0.160	2	188999471	missense variant	G/A;C;T	snv		1
rs112371422	COL3A1	1.000	0.160	2	189007569	stop gained	C/G;T	snv	8.0E-05	1
rs112456072	COL3A1	1.000	0.160	2	189008961	missense variant	G/A	snv		1
rs112532745	COL3A1	1.000	0.160	2	189010366	splice donor variant	G/T	snv		1
rs112978464	COL3A1	1.000	0.160	2	189004136	missense variant	G/A	snv		1
rs113485686	COL3A1	1.000	0.160	2	189001554	missense variant	G/A	snv		1
rs113871730	COL3A1	1.000	0.160	2	188991697	missense variant	G/A	snv		1
rs121912913	COL3A1	1.000	0.160	2	189004302	missense variant	G/A;T	snv		1
rs121912914	COL3A1	1.000	0.160	2	189006400	missense variant	G/A;T	snv		1
rs121912915	COL3A1	1.000	0.160	2	189006965	missense variant	G/T	snv		1
rs121912916	COL3A1	1.000	0.160	2	189006207	missense variant	G/A	snv		1