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: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Stage III Gallbladder Cancer AJCC v8
0.030 0.667 3 2007 2014
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.030 1.000 3 2012 2016
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 1.000 3 2002 2008
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.030 1.000 3 2010 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.030 0.333 3 2009 2014
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder
0.030 0.667 3 2007 2014
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.030 < 0.001 3 2007 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.020 1.000 2 2011 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma
0.020 < 0.001 2 2008 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.020 1.000 2 2014 2017
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm
0.020 < 0.001 2 2008 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Malignant neoplasm of urinary bladder
0.020 1.000 2 2011 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.020 1.000 2 2007 2016
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.020 1.000 2 2012 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
0.020 1.000 2 2011 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 1.000 2 2007 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.020 1.000 2 2012 2012
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 1.000 2 2003 2008
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Hereditary Nonpolyposis Colorectal Cancer
0.010 1.000 1 2008 2008
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 1.000 1 2006 2006
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis
0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia
0.010 1.000 1 2013 2013
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0021364
Disease: Male infertility
Male infertility
0.010 1.000 1 2014 2014
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 1.000 1 2019 2019