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: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
0.010 < 0.001 1 2016 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 < 0.001 1 2007 2007
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 < 0.001 1 2018 2018
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0334108
Disease: Multiple polyps
Multiple polyps
0.010 < 0.001 1 2018 2018
dbSNP: rs1463850736
rs1463850736
12 25225676 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 < 0.001 1 2018 2018
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 < 0.001 1 2012 2012
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 0.500 2 2012 2016
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.020 0.500 2 2012 2019
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 0.500 2 2012 2016
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.050 0.600 5 2011 2017
dbSNP: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.040 0.750 4 2015 2019
dbSNP: rs61764370
rs61764370
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 0.750 4 2011 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.050 0.800 5 2011 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 0.857 14 2003 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.080 0.875 8 2008 2016
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
Secondary malignant neoplasm of colon and/or rectum
0.090 0.889 9 2010 2017
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 0.909 11 2010 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 0.909 11 2010 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0.923 13 1999 2020
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 0.933 12 2010 2019
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.947 19 2005 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 0.970 67 1999 2020