DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: KIT ×

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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
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			2
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			2
rs121913684	KIT	0.925	0.120	4	54733094	missense variant	A/G	snv			1
rs121913679	KIT	1.000	0.120	4	54728121	missense variant	G/A	snv			1
rs28933371	KIT	1.000	0.120	4	54727519	missense variant	T/G	snv			1
rs121913680	KIT	0.925	0.200	4	54727515	missense variant	G/A	snv			1
rs121913687	KIT	1.000	0.120	4	54736552	missense variant	A/C	snv			1
rs794726671	KIT	1.000	0.120	4	54727520	missense variant	T/G	snv			1
rs121913517	KIT	0.851	0.120	4	54727444	missense variant	T/A;C;G	snv			1
rs121913509	KIT	1.000	0.080	4	54736528	missense variant	G/A	snv			1
rs1057519709	KIT	0.925	0.080	4	54733154	missense variant	GA/AT	mnv			1
rs145602440	KIT	1.000	0.080	4	54733118	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs751005114	KIT	1.000	0.080	4	54731395	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			1
rs1057519713	KIT	0.925	0.120	4	54736498	missense variant	G/C	snv			1