DisGeNET - a database of gene-disease associations

Single tumor, C1298180

Variant: rs1060502564 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060502564

rs1060502564

KIT

0.010

GeneticVariation

BEFREE

The novel mutations E73K, T96M (both in exon 2), and A636V (in exon 13) were detected in a single tumor.

2006