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
rs1057517724	COL7A1	1.000	0.080	3	48576771	missense variant	C/G	snv			1
rs1064797081	COL7A1	1.000	0.080	3	48566686	missense variant	C/T	snv			1
rs121912828	COL7A1	1.000	0.080	3	48566281	missense variant	A/T	snv		7.0E-06	1
rs121912838	COL7A1	1.000	0.080	3	48575428	missense variant	C/T	snv	2.5E-05	2.1E-05	1
rs121912849	COL7A1	1.000	0.080	3	48575236	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		1
rs121912851	COL7A1	1.000	0.080	3	48567736	missense variant	C/T	snv		1.4E-05	1
rs1333259313	COL7A1	1.000	0.080	3	48566545	missense variant	C/T	snv	1.2E-05	2.1E-05	1
rs139318843	COL7A1	1.000	0.080	3	48568101	missense variant	G/A	snv	2.0E-05	4.9E-05	1
rs1439299333	COL7A1 ; MIR711	1.000	0.080	3	48580908	missense variant	C/T	snv	4.0E-06		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
rs755669902	COL7A1	1.000	0.080	3	48574549	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs760891216	COL7A1	1.000	0.080	3	48568819	missense variant	C/T	snv	2.1E-05	7.0E-06	1
rs766931219	COL7A1	1.000	0.080	3	48575445	missense variant	C/G	snv	4.2E-06		1
rs770304825	COL7A1 ; MIR711	1.000	0.080	3	48580047	missense variant	C/T	snv	1.2E-05		1
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs144023803	COL7A1	0.776	0.120	3	48590721	stop gained	G/A	snv	3.6E-05	2.1E-05	9
rs1203706188	COL7A1	0.790	0.120	3	48593554	stop gained	G/A;T	snv		7.0E-06	7
rs368007918	COL7A1	0.790	0.120	3	48591527	stop gained	G/A	snv	8.0E-06		7
rs761234904	COL7A1	0.790	0.120	3	48584754	stop gained	G/A	snv	1.2E-05	1.4E-05	7
rs1368134215	COL7A1	0.925	0.080	3	48575673	stop gained	G/A	snv			2
rs143457874	COL7A1 ; UCN2	0.925	0.080	3	48565636	stop gained	G/A	snv	4.0E-06	2.8E-05	2
rs1553612617	COL7A1	1.000	0.080	3	48586983	stop gained	G/A	snv			2
rs372166543	UCN2 ; COL7A1	0.925	0.080	3	48565160	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		2
rs1064797079	COL7A1	1.000	0.080	3	48588988	stop gained	-/TCAG	delins			1