Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967

2011
dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523

2008
dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525

2008
dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		0.800 GeneticVariation UNIPROT Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359

2008
dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		C 0.800 CausalMutation CLINVAR

dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		T 0.800 CausalMutation CLINVAR

dbSNP: rs281864719
rs281864719
ALK
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 		G 0.800 CausalMutation CLINVAR