ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: Congenital 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: rs281864719
rs281864719 		0.763 0.240 2 29220831 missense variant A/C;G;T snv
CUI: C4024986
Disease: Congenital neuroblastoma
Congenital neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs281864720
rs281864720 		0.925 0.040 2 29213994 missense variant A/C;G;T snv
CUI: C4024986
Disease: Congenital neuroblastoma
Congenital neuroblastoma 		Neoplasms 0.010 1.000 1 2014 2014