DisGeNET - a database of gene-disease associations

List of associated variants

Ehlers-Danlos Syndrome, Type IV, C0268338

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
rs121912916	COL3A1	1.000	0.160	2	189006207	missense variant	G/A	snv		1
rs121912917	COL3A1	1.000	0.160	2	189008952	missense variant	G/A;T	snv		1
rs121912918	COL3A1	1.000	0.160	2	189008135	missense variant	G/A;T	snv		1
rs121912919	COL3A1	1.000	0.160	2	188991678	missense variant	G/A	snv		1
rs121912921	COL3A1	1.000	0.160	2	188998693	missense variant	G/A	snv		1
rs121912922	COL3A1	1.000	0.160	2	189004312	missense variant	G/A;T	snv	4.2E-06	1
rs121912924	COL3A1	1.000	0.160	2	189007546	missense variant	G/A	snv		1
rs121912925	COL3A1	1.000	0.160	2	188999560	missense variant	G/A;T	snv		1
rs121912926	COL3A1	1.000	0.160	2	188988099	missense variant	G/A;C;T	snv		1
rs121912927	COL3A1	1.000	0.160	2	188990308	missense variant	G/A;T	snv		1
rs1553507265	COL3A1	1.000	0.160	2	188988611	frameshift variant	C/-	delins		1
rs1553507274	COL3A1	1.000	0.160	2	188988626	missense variant	G/T	snv		1
rs1553507557	COL3A1	1.000	0.160	2	188991523	missense variant	G/A	snv		1
rs1553507614	COL3A1	1.000	0.160	2	188992185	missense variant	G/A	snv		1
rs1553508238	COL3A1	1.000	0.160	2	188996443	missense variant	G/A	snv		1
rs1553508338	COL3A1	1.000	0.160	2	188997165	missense variant	G/A	snv		1
rs1553509187	COL3A1	1.000	0.160	2	189004082	missense variant	G/A	snv		1
rs1553509208	COL3A1	1.000	0.160	2	189004261	frameshift variant	C/-	del		1
rs1553509391	COL3A1	1.000	0.160	2	189006206	missense variant	G/A	snv		1
rs1553509430	COL3A1	1.000	0.160	2	189006445	missense variant	G/A	snv		1
rs1553509630	COL3A1	1.000	0.160	2	189007942	splice region variant	AG/-	del		1
rs1553509726	COL3A1	1.000	0.160	2	189008925	missense variant	G/A	snv		1
rs1553509744	COL3A1	1.000	0.160	2	189008979	missense variant	G/A	snv		1
rs1553510000	COL3A1	1.000	0.160	2	189011640	stop gained	G/T	snv		1
rs1559053784	COL3A1	1.000	0.160	2	188988139	splice region variant	GTATAGC/ACA	delins		1