DisGeNET - a database of gene-disease associations

List of associated variants

EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1, C4552122

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
rs66612022	COL1A2	0.763	0.240	7	94409768	missense variant	G/A;T	snv			9
rs72659319	COL1A2	0.763	0.240	7	94426459	missense variant	G/A;C	snv			9
rs67543427	COL1A2	0.776	0.240	7	94410457	missense variant	G/A;T	snv			8
rs67865220	COL1A2	0.851	0.120	7	94409795	missense variant	G/A;C;T	snv			4
rs1554395471	COL1A2	0.882	0.120	7	94405197	splice acceptor variant	A/C;G	snv			3
rs66619856	COL1A2	0.882	0.120	7	94410278	missense variant	G/A;T	snv			3
rs72656355	COL1A2	0.882	0.200	7	94401565	splice acceptor variant	A/G	snv			3
rs72656357	COL1A2	0.882	0.200	7	94401622	splice donor variant	T/C	snv			3
rs72656370	COL1A2	0.882	0.120	7	94406286	missense variant	G/A	snv	4.0E-06		3
rs72656387	COL1A2	0.882	0.120	7	94409367	missense variant	G/A	snv	8.0E-06	7.0E-06	3
rs72656392	COL1A2	0.882	0.120	7	94409732	missense variant	G/A;C	snv			3
rs72658118	COL1A2	0.882	0.120	7	94412095	missense variant	G/A	snv			3
rs72659310	COL1A2	0.882	0.120	7	94425664	splice donor variant	G/A	snv			3
rs72659335	COL1A2	0.882	0.120	7	94427288	missense variant	G/A;T	snv			3
rs906553840	COL1A2	0.882	0.120	7	94409403	missense variant	G/A;C	snv			3
rs61735045	COL5A1	0.882	0.160	9	134750808	missense variant	G/A	snv	3.5E-02	3.1E-02	3
rs1410254723	COL1A2	0.925	0.120	7	94404574	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs1554395411	COL1A2	0.925	0.120	7	94404702	missense variant	G/A	snv			2
rs1554395431	COL1A2	0.925	0.120	7	94404893	splice donor variant	G/A	snv			2
rs1554395970	COL1A2	0.925	0.120	7	94408815	missense variant	G/C	snv			2
rs1554396361	COL1A2	0.925	0.120	7	94411128	missense variant	G/A	snv			2
rs1554396612	COL1A2	0.925	0.120	7	94412656	missense variant	G/C	snv			2
rs1554396615	COL1A2	0.925	0.120	7	94412683	splice donor variant	G/C	snv			2
rs1554396679	COL1A2	0.925	0.120	7	94413092	missense variant	G/A	snv			2