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: rs2395655
rs2395655 		0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2014 2019
dbSNP: rs2395655
rs2395655 		0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3176336
rs3176336 		0.925 0.080 6 36681039 intron variant A/T snv 0.54
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		Neoplasms; Eye Diseases 0.030 1.000 3 2013 2018
dbSNP: rs3176326
rs3176326 		1.000 0.080 6 36679512 intron variant G/A snv 0.20
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 2 2018 2018
dbSNP: rs2395655
rs2395655 		0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2395655
rs2395655 		0.882 0.120 6 36677919 5 prime UTR variant A/G snv 0.43 0.49
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs762624
rs762624 		0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs762624
rs762624 		0.851 0.280 6 36677811 non coding transcript exon variant A/C;T snv 0.37; 2.4E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3829964
rs3829964 		1.000 0.080 6 36676721 intron variant T/C snv 0.60
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.030 1.000 3 1995 2016
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2012 2016
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2012 2016
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2012 2016
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3829963
rs3829963 		1.000 0.080 6 36676609 intron variant C/A snv 0.21
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2005 2015
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2005 2015
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.040 1.000 4 2005 2015
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.040 1.000 4 2005 2015
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.020 1.000 2 2015 2015
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2015 2015
dbSNP: rs1059234
rs1059234 		0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2015 2015
dbSNP: rs1801270
rs1801270 		0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2015 2015
dbSNP: rs762623
rs762623 		1.000 0.160 6 36677689 non coding transcript exon variant G/A snv 0.12
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015