DisGeNET - a database of gene-disease associations

List of associated variants

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2, C4538407

Source: ALL

Results per page

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
rs72645347	COL1A1	0.790	0.280	17	50196337	missense variant	G/A	snv			10
rs1554395471	COL1A2	0.882	0.120	7	94405197	splice acceptor variant	A/C;G	snv			3
rs1554396271	COL1A2	0.925	0.120	7	94410899	missense variant	G/A;T	snv			3
rs66773001	COL1A2	0.882	0.120	7	94410251	missense variant	G/A;T	snv			3
rs67525025	COL1A2	0.882	0.120	7	94408798	missense variant	G/A;T	snv			3
rs72658177	COL1A2	0.882	0.120	7	94420613	missense variant	G/T	snv			3
rs72659325	COL1A2	0.882	0.120	7	94427008	missense variant	G/C;T	snv			3
rs1554396680	COL1A2	0.925	0.120	7	94413093	missense variant	G/C	snv			2
rs1562900123	COL1A2	0.925	0.120	7	94407890	splice donor variant	CAGTAAGT/-	del			2
rs1562900513	COL1A2	0.925	0.120	7	94408780	missense variant	G/T	snv			2
rs1562905246	COL1A2	0.925	0.120	7	94420595	missense variant	G/A	snv			2
rs1562907190	COL1A2	0.925	0.120	7	94425858	splice donor variant	G/C	snv			2
rs72656375	COL1A2	0.925	0.120	7	94407845	splice acceptor variant	A/G	snv			2
rs72658194	COL1A2	0.925	0.120	7	94423074	missense variant	G/A	snv			2
rs80338764	LOC101448202 ; COL5A1	0.925		9	134824817	missense variant	G/C	snv			2
rs1131691820	COL5A1	1.000		9	134817028	frameshift variant	-/T	delins			1
rs1564446117	COL5A1	1.000		9	134767030	stop gained	C/T	snv			1
rs1564453833	COL5A1	1.000		9	134780101	coding sequence variant	G/-	delins			1
rs1564455577	COL5A1	1.000		9	134782721	splice donor variant	G/T	snv			1
rs1564457102	COL5A1	1.000		9	134785066	frameshift variant	C/-	delins			1
rs1564471440	COL5A1	1.000		9	134806238	frameshift variant	-/TCCAGGGAGACCTGGGC	delins			1
rs1564475090	COL5A1	1.000		9	134811590	frameshift variant	G/-	delins			1
rs1564478485	COL5A1	1.000		9	134815934	splice acceptor variant	G/T	snv			1
rs777625241	COL5A1	1.000		9	134700037	missense variant	C/T	snv	8.0E-06	7.0E-06	1
rs1186550791	COL5A2	1.000		2	189051364	missense variant	C/G	snv			1