DisGeNET - a database of gene-disease associations

List of associated variants

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1, C4551623

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	AF GENOME	Num. diseases
rs72653170	COL1A1	0.752	0.240	17	50188908	missense variant	G/A	snv	8.0E-06		10
rs72645357	COL1A1	0.776	0.240	17	50196163	missense variant	C/T	snv			8
rs1555574303	COL1A1	0.790	0.240	17	50196172	missense variant	C/G	snv			7
rs66490707	COL1A1	0.790	0.240	17	50195231	splice donor variant	C/G;T	snv			7
rs66555264	COL1A1	0.790	0.240	17	50192993	splice donor variant	C/A;T	snv			7
rs67879854	COL1A1	0.790	0.240	17	50190578	missense variant	C/A;T	snv			7
rs72648326	COL1A1	0.790	0.240	17	50195288	stop gained	G/A	snv			7
rs72651642	COL1A1	0.790	0.240	17	50191826	stop gained	G/A	snv		7.0E-06	7
rs74821926	ALB	1.000	0.160	4	73404398	missense variant	G/A;C;T	snv	1.2E-05; 8.0E-06		1
rs72667019	COL1A1	1.000	0.160	17	50198506	splice acceptor variant	T/A;C	snv			1
rs72667020	COL1A1	1.000	0.160	17	50198505	splice acceptor variant	C/A;G;T	snv			1
rs72667022	COL1A1	1.000	0.160	17	50198433	missense variant	C/T	snv			1
rs67162110	COL1A2	1.000	0.160	7	94412122	splice donor variant	G/A;C	snv	1.2E-05		1
rs72656354	COL1A2	1.000	0.160	7	94395818	intron variant	A/G	snv			1
rs72659343	COL1A2	1.000	0.160	7	94428367	stop gained	G/A;T	snv	2.0E-05		1
rs797044459	COL1A2	1.000	0.160	7	94404567	frameshift variant	-/C	delins			1