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: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2017 2017
dbSNP: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2017 2017
dbSNP: rs560890523
rs560890523
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2017 2017
dbSNP: rs57698689
rs57698689
1.000 0.080 12 25205729 3 prime UTR variant TT/-;T delins 0.48
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2017 2017
dbSNP: rs606231202
rs606231202
1.000 0.040 12 25245355 inframe insertion -/CCA delins
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 0
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: 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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 1.000 19 2002 2019
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 16 2005 2015
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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 1.000 15 2011 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: rs17851045
rs17851045
0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 12 2005 2016
dbSNP: rs104894365
rs104894365
0.827 0.320 12 25245345 missense variant C/T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3
0.800 1.000 11 2006 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: rs121913530
rs121913530
0.583 0.640 12 25245351 missense variant C/A;G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.700 1.000 11 2005 2014
dbSNP: rs112445441
rs112445441
0.658 0.400 12 25245347 missense variant C/A;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.100 1.000 10 2004 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