DisGeNET - a database of gene-disease associations

List of associated variants

Piebaldism, C0080024

Source: UNIPROT ×

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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
rs121913679	KIT	1.000	0.120	4	54728121	missense variant	G/A	snv			1
rs121913680	KIT	0.925	0.200	4	54727515	missense variant	G/A	snv			1
rs121913684	KIT	0.925	0.120	4	54733094	missense variant	A/G	snv			1
rs121913687	KIT	1.000	0.120	4	54736552	missense variant	A/C	snv			1
rs28933371	KIT	1.000	0.120	4	54727519	missense variant	T/G	snv			1
rs794726671	KIT	1.000	0.120	4	54727520	missense variant	T/G	snv			1