ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: hereditary neuroblastoma ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994087
rs113994087 		0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs281864719
rs281864719 		0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs863225281
rs863225281 		0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs864309584
rs864309584 		0.925 0.080 2 29223430 missense variant C/T snv 7.0E-06
CUI: C3899155
Disease: hereditary neuroblastoma
hereditary neuroblastoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2017 2017