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: rs78378222
rs78378222
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C0017638
Disease: Glioma
Glioma
0.720 1.000 4 2012 2018
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.720 1.000 2 2013 2017
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.720 1.000 2 2012 2015
dbSNP: rs121912654
rs121912654
0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.720 1.000 2 2011 2011
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.720 1.000 2 2005 2009
dbSNP: rs28934576
rs28934576
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.720 1.000 2 2007 2012
dbSNP: rs121912663
rs121912663
0.925 0.120 17 7673745 missense variant T/A;C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 19 1990 2017
dbSNP: rs121912664
rs121912664
0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.710 1.000 19 2001 2017
dbSNP: rs144340710
rs144340710
1.000 0.120 17 7674259 missense variant T/A;C snv 4.0E-06; 1.8E-04
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome
0.710 1.000 10 1990 2017
dbSNP: rs11540652
rs11540652
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 5 2014 2019
dbSNP: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.710 1.000 4 2010 2016
dbSNP: rs78378222
rs78378222
0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.710 1.000 3 2013 2018
dbSNP: rs1057519991
rs1057519991
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.710 1.000 2 2009 2016
dbSNP: rs1057519991
rs1057519991
0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06
Squamous cell carcinoma of the head and neck
0.710 1.000 2 2003 2016
dbSNP: rs1057520005
rs1057520005
0.742 0.360 17 7673800 missense variant C/A;G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 1.000 2 2015 2016
dbSNP: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.710 1.000 2 1991 2016
dbSNP: rs121912651
rs121912651
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.710 1.000 2 2016 2017
dbSNP: rs121912655
rs121912655
0.724 0.400 17 7674238 missense variant C/A;G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 2 2004 2016
dbSNP: rs121912656
rs121912656
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.710 1.000 2 2012 2016
dbSNP: rs121912656
rs121912656
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 2 2012 2016
dbSNP: rs121912656
rs121912656
0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
Squamous cell carcinoma of the head and neck
0.710 1.000 2 2016 2018
dbSNP: rs121912666
rs121912666
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.710 1.000 2 2016 2019
dbSNP: rs121912666
rs121912666
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
Squamous cell carcinoma of the head and neck
0.710 1.000 2 2007 2016
dbSNP: rs121913343
rs121913343
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.710 1.000 2 2016 2016
dbSNP: rs121913343
rs121913343
0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.710 1.000 2 2014 2014