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: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.020 1.000 2 2012 2015
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.020 0.500 2 2007 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 1.000 1 2014 2014
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2016 2016
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2016 2016
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2017 2017
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2012 2012
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 1.000 1 2019 2019
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 1.000 1 2015 2015
dbSNP: rs1273593548
rs1273593548
0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2016 2016
dbSNP: rs1412335442
rs1412335442
0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 1.000 1 2012 2012
dbSNP: rs1412335442
rs1412335442
0.925 0.120 7 106868317 missense variant G/T snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs373644334
rs373644334
7 106867748 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 1.000 1 2014 2014
dbSNP: rs1226137439
rs1226137439
1.000 0.120 7 106868830 synonymous variant G/A snv 4.0E-06
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 1.000 1 2018 2018
dbSNP: rs1226994105
rs1226994105
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2015 2015
dbSNP: rs1226994105
rs1226994105
0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.010 1.000 1 2012 2012