TNKS, tankyrase, 8658

N. diseases: 88; N. variants: 9
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: rs35231275
rs35231275
8 9762399 intron variant T/A snv 0.22
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4383974
rs4383974
8 9761838 intron variant C/G snv 0.30
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs4383974
rs4383974
8 9761838 intron variant C/G snv 0.30
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs12541709
rs12541709
1.000 0.080 8 9751081 intron variant C/G snv 0.29
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs12541709
rs12541709
1.000 0.080 8 9751081 intron variant C/G snv 0.29
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4840437
rs4840437
1.000 0.040 8 9748754 intron variant G/A;T snv 0.58
CUI: C0271183
Disease: Severe myopia
Severe myopia
Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6985140
rs6985140
0.882 0.080 8 9679917 non coding transcript exon variant A/C;G snv 8.0E-06; 1.0E-01
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6985140
rs6985140
0.882 0.080 8 9679917 non coding transcript exon variant A/C;G snv 8.0E-06; 1.0E-01
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6985140
rs6985140
0.882 0.080 8 9679917 non coding transcript exon variant A/C;G snv 8.0E-06; 1.0E-01
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6989782
rs6989782
1.000 0.040 8 9753028 intron variant C/T snv 0.27
CUI: C0271183
Disease: Severe myopia
Severe myopia
Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6990097
rs6990097
0.882 0.120 8 9555347 non coding transcript exon variant T/C snv 0.28
Secondary malignant neoplasm of lymph node
Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs6990097
rs6990097
0.882 0.120 8 9555347 non coding transcript exon variant T/C snv 0.28
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6990097
rs6990097
0.882 0.120 8 9555347 non coding transcript exon variant T/C snv 0.28
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6990300
rs6990300
0.925 0.080 8 9690351 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6990300
rs6990300
0.925 0.080 8 9690351 intron variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7015700
rs7015700
1.000 0.080 8 9670197 splice donor variant G/A snv 0.23
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs7015700
rs7015700
1.000 0.080 8 9670197 splice donor variant G/A snv 0.23
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015