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: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.720 1.000 2 2013 2016
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 1.000 11 2013 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 1.000 8 2013 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.060 1.000 6 2012 2020
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0017638
Disease: Glioma
Glioma
0.050 0.800 5 2016 2020
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.050 1.000 5 2013 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.030 1.000 3 2016 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.030 1.000 3 2016 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
0.020 1.000 2 2018 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma
0.020 1.000 2 2018 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.020 0.500 2 2018 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms
0.020 1.000 2 2017 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2017 2017
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.010 1.000 1 2018 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C4722099
Disease: High grade glioma
High grade glioma
0.010 1.000 1 2018 2018
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1997217
Disease: Low grade glioma
Low grade glioma
0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0026499
Disease: Monosomy
Monosomy
0.010 1.000 1 2016 2016
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
0.010 1.000 1 2013 2013
dbSNP: rs1057519903
rs1057519903
0.683 0.080 1 226064434 missense variant A/T snv
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma
0.010 1.000 1 2016 2016