DDB2, damage specific DNA binding protein 2, 1643

N. diseases: 118; N. variants: 13
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: rs121434640
rs121434640
1.000 0.160 11 47234872 missense variant G/A snv 2.0E-05 2.1E-05
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 1 1996 1996
dbSNP: rs121434639
rs121434639
1.000 0.160 11 47234784 missense variant A/G snv
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 < 0.001 1 2014 2014
dbSNP: rs7395581
rs7395581
11 47224846 intron variant G/A;C;T snv
High density lipoprotein measurement
0.700 1.000 2 2015 2018
dbSNP: rs3758667
rs3758667
1.000 0.040 11 47214747 intron variant A/G snv 0.69
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs3758667
rs3758667
1.000 0.040 11 47214747 intron variant A/G snv 0.69
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs4647728
rs4647728
11 47230556 intron variant G/A snv 2.8E-02
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2018 2018
dbSNP: rs121434641
rs121434641
1.000 0.160 11 47235326 stop gained C/T snv
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121434642
rs121434642
1.000 0.160 11 47235308 missense variant G/T snv
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1281033732
rs1281033732
1.000 0.160 11 47237862 missense variant T/C snv
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2000 2000
dbSNP: rs2029298
rs2029298
0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2029298
rs2029298
0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2029298
rs2029298
0.882 0.080 11 47213167 upstream gene variant C/T snv 0.62
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs326222
rs326222
0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs326222
rs326222
0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs326222
rs326222
0.882 0.080 11 47238117 intron variant T/C snv 0.60 0.58
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
0.882 0.080 11 47233766 intron variant G/A snv 0.26
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
0.882 0.080 11 47233766 intron variant G/A snv 0.26
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3781619
rs3781619
0.882 0.080 11 47233766 intron variant G/A snv 0.26
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3781620
rs3781620
0.882 0.080 11 47237713 splice donor variant G/C snv 0.27
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3781620
rs3781620
0.882 0.080 11 47237713 splice donor variant G/C snv 0.27
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3781620
rs3781620
0.882 0.080 11 47237713 splice donor variant G/C snv 0.27
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs830083
rs830083
0.807 0.120 11 47232500 intron variant G/A;C;T snv
CUI: C0017154
Disease: Gastritis, Atrophic
Gastritis, Atrophic
Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs830083
rs830083
0.807 0.120 11 47232500 intron variant G/A;C;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs830083
rs830083
0.807 0.120 11 47232500 intron variant G/A;C;T snv
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs830083
rs830083
0.807 0.120 11 47232500 intron variant G/A;C;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006