DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Scarring alopecia of scalp ×

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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
rs119103263	MFN2	0.827	0.240	1	11992659	missense variant	C/T	snv			17
rs121912854	COL7A1	0.851	0.200	3	48592915	stop gained	G/A	snv	1.2E-05	7.0E-06	16
rs121912855	COL7A1	0.851	0.200	3	48575218	missense variant	G/A	snv	2.0E-05	7.0E-06	15