DisGeNET - a database of gene-disease associations

List of associated variants

EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder), C2608084

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
rs121912771	COL17A1	0.882	0.080	10	104034193	missense variant	C/T	snv	1.1E-04	1.5E-04	3
rs121912769	COL17A1	0.925	0.080	10	104034711	stop gained	G/A	snv	2.1E-05	1.4E-05	2