POLB, DNA polymerase beta, 5423

N. diseases: 63; N. variants: 6
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: rs780354238
rs780354238 		0.925 0.080 8 42369855 missense variant A/G snv 4.4E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2005 2017
dbSNP: rs780354238
rs780354238 		0.925 0.080 8 42369855 missense variant A/G snv 4.4E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.030 1.000 3 2005 2017
dbSNP: rs1452231640
rs1452231640 		1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2019 2019
dbSNP: rs780354238
rs780354238 		0.925 0.080 8 42369855 missense variant A/G snv 4.4E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2005 2017
dbSNP: rs780354238
rs780354238 		0.925 0.080 8 42369855 missense variant A/G snv 4.4E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2005 2017
dbSNP: rs1012381950
rs1012381950 		1.000 0.080 8 42353758 intron variant T/C snv
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1452231640
rs1452231640 		1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1452231640
rs1452231640 		1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1452231640
rs1452231640 		1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs3136717
rs3136717 		1.000 0.080 8 42338923 intron variant C/G;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3136744
rs3136744 		1.000 0.080 8 42349829 intron variant A/C snv 9.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2007 2007
dbSNP: rs3136797
rs3136797 		0.827 0.120 8 42369287 missense variant C/G snv 1.1E-02 1.1E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012