Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.040 1.000 4 2017 2020
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.040 1.000 4 2014 2019
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2018 2018
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
0.010 1.000 1 2018 2018
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2019 2019
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
0.010 1.000 1 2018 2018
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2019 2019
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0677936
Disease: Refractory cancer
Refractory cancer
0.010 1.000 1 2017 2017
dbSNP: rs1057519783
rs1057519783
ALK
0.851 0.080 2 29220747 missense variant C/T snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 1.000 1 2019 2019