DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Hallopeau-Siemens Disease ×

Variants associated to the Gene: COL7A1 ×

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
rs1559444716	COL7A1	1.000	0.080	3	48595076	splice region variant	T/C	snv			1
rs1560219171	COL7A1	1.000	0.080	3	48576286	missense variant	C/T	snv			1
rs374718902	MIR711 ; COL7A1	1.000	0.080	3	48579241	missense variant	C/G;T	snv	1.2E-05		1
rs730880285	MIR711 ; COL7A1	1.000	0.080	3	48580881	splice donor variant	C/G	snv			1
rs730880286	COL7A1	1.000	0.080	3	48586378	frameshift variant	G/-	delins			1
rs766931219	COL7A1	1.000	0.080	3	48575445	missense variant	C/G	snv	4.2E-06		1
rs767182886	COL7A1	1.000	0.080	3	48578320	splice donor variant	C/T	snv			1
rs767539005	COL7A1	1.000	0.080	3	48574262	splice region variant	C/T	snv	5.6E-05		1
rs770304825	COL7A1 ; MIR711	1.000	0.080	3	48580047	missense variant	C/T	snv	1.2E-05		1
rs775288140	COL7A1	1.000	0.080	3	48593101	splice donor variant	C/G;T	snv	4.0E-06; 1.2E-05		1
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs760891216	COL7A1	1.000	0.080	3	48568819	missense variant	C/T	snv	2.1E-05	7.0E-06	1
rs121912855	COL7A1	0.851	0.200	3	48575218	missense variant	G/A	snv	2.0E-05	7.0E-06	16
rs1032335328	MIR711 ; COL7A1	0.925	0.080	3	48579271	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs1203706188	COL7A1	0.790	0.120	3	48593554	stop gained	G/A;T	snv		7.0E-06	7
rs121912828	COL7A1	1.000	0.080	3	48566281	missense variant	A/T	snv		7.0E-06	1
rs755669902	COL7A1	1.000	0.080	3	48574549	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs121912851	COL7A1	1.000	0.080	3	48567736	missense variant	C/T	snv		1.4E-05	1
rs761234904	COL7A1	0.790	0.120	3	48584754	stop gained	G/A	snv	1.2E-05	1.4E-05	7
rs1333259313	COL7A1	1.000	0.080	3	48566545	missense variant	C/T	snv	1.2E-05	2.1E-05	1
rs144023803	COL7A1	0.776	0.120	3	48590721	stop gained	G/A	snv	3.6E-05	2.1E-05	9
rs121912838	COL7A1	1.000	0.080	3	48575428	missense variant	C/T	snv	2.5E-05	2.1E-05	1
rs143457874	COL7A1 ; UCN2	0.925	0.080	3	48565636	stop gained	G/A	snv	4.0E-06	2.8E-05	2
rs139318843	COL7A1	1.000	0.080	3	48568101	missense variant	G/A	snv	2.0E-05	4.9E-05	1
rs768128088	COL7A1	1.000	0.080	3	48573864	frameshift variant	-/G	delins		5.6E-05	1