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: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.060 0.833 6 2004 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.060 0.833 6 2004 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.060 0.833 6 2004 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.040 1.000 4 2009 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.040 1.000 4 2009 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0004096
Disease: Asthma
Asthma
0.030 1.000 3 2005 2014
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
0.020 1.000 2 2006 2014
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.020 1.000 2 2010 2012
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.020 1.000 2 2006 2014
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
Squamous cell carcinoma of esophagus
0.020 0.500 2 2010 2013
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.010 < 0.001 1 2012 2012
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 1.000 1 2018 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 < 0.001 1 2004 2004
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0043144
Disease: Wheezing
Wheezing
0.010 1.000 1 2014 2014
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 1.000 1 2018 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
Malignant neoplasm of colon and/or rectum
0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 1.000 1 2017 2017
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.010 1.000 1 2018 2018
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2019 2019
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 < 0.001 1 2012 2012
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0017638
Disease: Glioma
Glioma
0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.010 1.000 1 2010 2010
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 1.000 1 2009 2009
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 1.000 1 2013 2013
dbSNP: rs1138272
rs1138272
0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.010 1.000 1 2013 2013