ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: Congenital chromosomal disease ×
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: rs281864719
rs281864719 		0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012
dbSNP: rs863225281
rs863225281 		0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2012 2012