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
CYP1A1
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
CYP1A1
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
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.030 0.667 3 2007 2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.030 0.667 3 2007 2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.030 < 0.001 3 2007 2012
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8 		0.030 0.667 3 2007 2014
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.030 1.000 3 2012 2016
dbSNP: rs1048943
rs1048943
CYP1A1
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
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 1.000 2 2011 2013
dbSNP: rs1048943
rs1048943
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
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
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms 		0.010 1.000 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1719495
Disease: Aggressive periodontitis, generalized
Aggressive periodontitis, generalized 		0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 < 0.001 1 2015 2015
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
CYP1A1
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		0.010 1.000 1 2019 2019