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: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.080 1.000 8 2010 2016
dbSNP: rs863225281
rs863225281
0.776 0.200 2 29220829 missense variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.080 1.000 8 2010 2016
dbSNP: rs1057519783
rs1057519783
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.040 1.000 4 2017 2020
dbSNP: rs1057519784
rs1057519784
0.827 0.080 2 29220765 missense variant G/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2017 2019
dbSNP: rs113994087
rs113994087
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs1057519696
rs1057519696
1.000 0.040 2 29214054 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs1057519697
rs1057519697
0.776 0.120 2 29220830 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1057519698
rs1057519698
0.827 0.120 2 29222347 missense variant A/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1057519785
rs1057519785
1.000 0.040 2 29222404 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs113866835
rs113866835
2 29220897 3 prime UTR variant T/C snv 3.8E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1400239417
rs1400239417
0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1453682751
rs1453682751
2 29193487 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs3738867
rs3738867
2 29209910 intron variant T/C snv 3.9E-02 9.5E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs751306825
rs751306825
0.925 0.080 2 29220759 missense variant G/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs863225283
rs863225283
0.925 0.080 2 29213993 missense variant A/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2016 2016