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
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: 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.070 1.000 7 2008 2017
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
Malignant neoplasm of colon and/or rectum
0.060 1.000 6 2008 2017
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids
0.040 1.000 4 2008 2016
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
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
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: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
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: 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: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma
0.010 1.000 1 2009 2009
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater
0.010 1.000 1 2009 2009
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: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa
0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
0.010 1.000 1 2010 2010
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0003467
Disease: Anxiety
Anxiety
0.010 1.000 1 2010 2010
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: 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: 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: C0023267
Disease: Fibroid Tumor
Fibroid Tumor
0.010 1.000 1 2011 2011
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.090 1.000 9 2012 2018
dbSNP: rs1048943
rs1048943
0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.090 1.000 9 2012 2018