DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Hallopeau-Siemens Disease ×

Variants associated to the Gene: COL7A1 ×

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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
rs200972872	COL7A1	0.790	0.120	3	48576249	splice region variant	C/T	snv	8.8E-05	9.8E-05	7
rs1560219171	COL7A1	1.000	0.080	3	48576286	missense variant	C/T	snv			1
rs1057517724	COL7A1	1.000	0.080	3	48576771	missense variant	C/G	snv			1
rs767182886	COL7A1	1.000	0.080	3	48578320	splice donor variant	C/T	snv			1
rs121912841	COL7A1 ; MIR711	0.925	0.120	3	48578497	missense variant	C/G;T	snv			2
rs374718902	MIR711 ; COL7A1	1.000	0.080	3	48579241	missense variant	C/G;T	snv	1.2E-05		1
rs1032335328	MIR711 ; COL7A1	0.925	0.080	3	48579271	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs770304825	COL7A1 ; MIR711	1.000	0.080	3	48580047	missense variant	C/T	snv	1.2E-05		1
rs730880285	MIR711 ; COL7A1	1.000	0.080	3	48580881	splice donor variant	C/G	snv			1
rs1439299333	COL7A1 ; MIR711	1.000	0.080	3	48580908	missense variant	C/T	snv	4.0E-06		1
rs1064797082	COL7A1	1.000	0.080	3	48581288	frameshift variant	G/-	delins			1
rs121912840	COL7A1	0.925	0.120	3	48581483	missense variant	C/G	snv			2
rs121912833	COL7A1	0.925	0.080	3	48584742	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		2
rs761234904	COL7A1	0.790	0.120	3	48584754	stop gained	G/A	snv	1.2E-05	1.4E-05	7
rs730880286	COL7A1	1.000	0.080	3	48586378	frameshift variant	G/-	delins			1
rs1553612617	COL7A1	1.000	0.080	3	48586983	stop gained	G/A	snv			2
rs1559423385	COL7A1	1.000	0.080	3	48587423	stop gained	G/A	snv			1
rs1064797079	COL7A1	1.000	0.080	3	48588988	stop gained	-/TCAG	delins			1
rs144023803	COL7A1	0.776	0.120	3	48590721	stop gained	G/A	snv	3.6E-05	2.1E-05	9
rs886058642	COL7A1	0.776	0.120	3	48590817	splice acceptor variant	C/T	snv			8
rs368007918	COL7A1	0.790	0.120	3	48591527	stop gained	G/A	snv	8.0E-06		7
rs1559435706	COL7A1	1.000	0.080	3	48591936	frameshift variant	T/-	del			2
rs121912830	COL7A1	1.000	0.080	3	48592613	stop gained	G/A;T	snv	7.2E-05		1
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs775288140	COL7A1	1.000	0.080	3	48593101	splice donor variant	C/G;T	snv	4.0E-06; 1.2E-05		1