Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0042963
Disease: Vomiting
Vomiting 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs1799801
rs1799801 		0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1799802
rs1799802 		0.925 0.200 16 13934224 missense variant C/T snv 4.0E-03 4.6E-03
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1799802
rs1799802 		0.925 0.200 16 13934224 missense variant C/T snv 4.0E-03 4.6E-03
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.060 1.000 6 2013 2017
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2003 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2003 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0025286
Disease: Meningioma
Meningioma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800067
rs1800067 		0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1800124
rs1800124 		0.925 0.080 16 13948220 missense variant A/G snv 1.3E-02 1.2E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008