DisGeNET - a database of gene-disease associations

List of shared variants

Cockayne-Touraine Disease, C0079136

Disease: Transient bullous dermolysis of the newborn

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
rs762162799	COL7A1	0.776	0.120	3	48575437	missense variant	C/G;T	snv	8.6E-06; 4.3E-06; 3.0E-05		8
rs121912834	COL7A1	0.827	0.120	3	48572941	missense variant	C/G;T	snv	4.0E-06		6