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
rs1032335328	MIR711 ; COL7A1	0.925	0.080	3	48579271	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs1055680335	COL7A1	0.925	0.080	3	48575497	missense variant	G/A;C	snv	4.1E-06		2
rs121912833	COL7A1	0.925	0.080	3	48584742	missense variant	C/A;G;T	snv	4.0E-06; 1.2E-05		2
rs121912843	COL7A1	0.925	0.080	3	48575475	missense variant	C/T	snv	4.1E-06		2
rs1368134215	COL7A1	0.925	0.080	3	48575673	stop gained	G/A	snv			2
rs142566193	COL7A1	0.925	0.080	3	48566303	missense variant	G/A	snv	1.1E-03	1.1E-03	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
rs1559435706	COL7A1	1.000	0.080	3	48591936	frameshift variant	T/-	del			2
rs372166543	UCN2 ; COL7A1	0.925	0.080	3	48565160	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		2
rs1057517724	COL7A1	1.000	0.080	3	48576771	missense variant	C/G	snv			1
rs1064797078	COL7A1	1.000	0.080	3	48595159	start lost	T/C	snv			1
rs1064797079	COL7A1	1.000	0.080	3	48588988	stop gained	-/TCAG	delins			1
rs1064797080	COL7A1	1.000	0.080	3	48575678	frameshift variant	TTCG/-	delins			1
rs1064797081	COL7A1	1.000	0.080	3	48566686	missense variant	C/T	snv			1
rs1064797082	COL7A1	1.000	0.080	3	48581288	frameshift variant	G/-	delins			1
rs121912828	COL7A1	1.000	0.080	3	48566281	missense variant	A/T	snv		7.0E-06	1
rs121912830	COL7A1	1.000	0.080	3	48592613	stop gained	G/A;T	snv	7.2E-05		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
rs121912852	COL7A1	1.000	0.080	3	48570304	stop gained	G/A	snv	8.0E-06		1
rs121912853	COL7A1	1.000	0.080	3	48566719	stop gained	C/A;T	snv	1.2E-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