ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
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: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.100 1.000 15 2008 2019
dbSNP: rs863225281
rs863225281
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.100 1.000 15 2008 2019
dbSNP: rs113994087
rs113994087
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.100 0.900 10 2011 2019
dbSNP: rs863225285
rs863225285
0.851 0.080 2 29209789 missense variant T/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.020 1.000 2 2017 2018
dbSNP: rs1057519697
rs1057519697
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
Neoplasms 0.010 1.000 1 2011 2011