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: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
0.050 1.000 5 2012 2020
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.030 1.000 3 2012 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2015 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C3640999
Disease: High Grade Astrocytic Tumor
High Grade Astrocytic Tumor
0.010 1.000 1 2018 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 1.000 1 2016 2016
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
0.010 1.000 1 2018 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 1.000 1 2019 2019
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0206726
Disease: gliosarcoma
gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0007762
Disease: Cerebellar Neoplasms
Cerebellar Neoplasms
0.010 1.000 1 2018 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C4722099
Disease: High grade glioma
High grade glioma
0.010 1.000 1 2018 2018
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C0026499
Disease: Monosomy
Monosomy
0.010 1.000 1 2016 2016
dbSNP: rs1057519904
rs1057519904
0.742 0.080 6 27872233 missense variant T/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 1.000 1 2013 2013