CDKN1A, cyclin dependent kinase inhibitor 1A, 1026

N. diseases: 490; N. variants: 17
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: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4135235
rs4135235 		0.925 0.080 6 36676795 intron variant A/T snv 7.2E-06
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4135235
rs4135235 		0.925 0.080 6 36676795 intron variant A/T snv 7.2E-06
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs762623
rs762623 		1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs762624
rs762624 		0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352 		0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs3176353
rs3176353 		6 36684828 intron variant C/T snv 3.2E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3176353
rs3176353 		6 36684828 intron variant C/T snv 3.2E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs733590
rs733590 		0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2011
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2011
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 0.500 2 2007 2011
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0153560
Disease: Kaposi's sarcoma of skin
Kaposi's sarcoma of skin 		Neoplasms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2395655
rs2395655 		0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs733590
rs733590 		0.882 0.120 6 36677426 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2011 2011