Source: ALL

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: 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: rs757816355
rs757816355
12 25225657 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2014 2014
dbSNP: rs953088090
rs953088090
12 25227262 missense variant T/C snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 1.000 1 2019 2019
dbSNP: rs953088090
rs953088090
12 25227262 missense variant T/C snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 1.000 1 2019 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
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.790 1.000 26 2002 2019
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 15 2010 2019
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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.100 1.000 13 2008 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2005 2014
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 1.000 11 2009 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.100 1.000 10 2010 2018
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.820 1.000 10 2005 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 1.000 10 2009 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.710 1.000 9 2005 2011
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: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 1.000 7 2012 2020
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.060 1.000 6 2009 2016
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
Malignant neoplasm of colon and/or rectum
0.060 1.000 6 2012 2019
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 6 1987 2014
dbSNP: rs121913529
rs121913529
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.050 1.000 5 2003 2019
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