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: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO
0.700 5 2005 2009
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.020 1.000 2 2006 2008
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.020 1.000 2 2006 2008
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2006 2008
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2014
dbSNP: rs117039649
rs117039649
0.923 0.107 12 68808776 intron variant G/C snp 2.3E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs117039649
rs117039649
0.923 0.107 12 68808776 intron variant G/C snp 2.3E-02
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.010 1.000 1 2015 2015
dbSNP: rs1353702185
rs1353702185
1.000 0.071 12 68839311 None C/G snp 4.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs138567205
rs138567205
0.923 0.071 12 68828783 missense variant A/G snp 2.8E-05 1.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs138567205
rs138567205
0.923 0.071 12 68828783 missense variant A/G snp 2.8E-05 1.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1690916
rs1690916
0.923 0.036 12 68841626 3 prime UTR variant G/A snp 0.37
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1690916
rs1690916
0.923 0.036 12 68841626 3 prime UTR variant G/A snp 0.37
CUI: C0005967
Disease: Bone neoplasms
Bone neoplasms
Musculoskeletal Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1690916
rs1690916
0.923 0.036 12 68841626 3 prime UTR variant G/A snp 0.37
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 1.000 1 2014 2014
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C1883486
Disease: Uterine Corpus Cancer
Uterine Corpus Cancer
0.010 1.000 1 2014 2014
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C4048328
Disease: cervical cancer
cervical cancer
Female Urogenital Diseases and Pregnancy Complications; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
0.010 1.000 1 2013 2013
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C1261473
Disease: Sarcoma
Sarcoma
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Male Urogenital Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
Familial multiple trichoepitheliomata
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2279744
rs2279744
0.647 0.393 12 68808800 intron variant T/G snp 0.31
Differentiated Thyroid Gland Carcinoma
0.010 1.000 1 2013 2013