Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913506
rs121913506
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. 24289326

2014
dbSNP: rs121913506
rs121913506
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 21689725

2011
dbSNP: rs121913506
rs121913506
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100

2010
dbSNP: rs121913506
rs121913506
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 15173254

2004
dbSNP: rs121913506
rs121913506
KIT
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		0.700 GeneticVariation UNIPROT Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 9990072

1999