DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Skin Erosion ×

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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
rs121912856	COL7A1	0.732	0.120	3	48593538	missense variant	T/C	snv	3.2E-05	9.1E-05	13
rs780261665	COL7A1	0.827	0.200	3	48590258	stop gained	G/A	snv	2.0E-05	1.4E-05	9