CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
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: rs3731217
rs3731217 		0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.050 1.000 5 2010 2018
dbSNP: rs1060501266
rs1060501266 		1.000 0.120 9 21968347 intron variant T/C snv 7.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 4 2001 2012
dbSNP: rs3731217
rs3731217 		0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.030 1.000 3 2010 2018
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 2 2011 2016
dbSNP: rs3731217
rs3731217 		0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2017 2018
dbSNP: rs3731217
rs3731217 		0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2013 2018
dbSNP: rs3731239
rs3731239 		0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2014
dbSNP: rs3731239
rs3731239 		0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2014
dbSNP: rs3731239
rs3731239 		0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2014
dbSNP: rs7036656
rs7036656 		9 21990458 intron variant C/T snv 0.74
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs2518720
rs2518720 		0.925 0.080 9 21978980 intron variant C/T snv 0.43
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2518720
rs2518720 		0.925 0.080 9 21978980 intron variant C/T snv 0.43
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2811709
rs2811709 		1.000 0.120 9 21980152 intron variant A/G snv 0.88
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2811710
rs2811710 		1.000 0.160 9 21991924 intron variant C/T snv 0.47
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3731199
rs3731199 		9 21989331 intron variant T/C snv 2.4E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3731199
rs3731199 		9 21989331 intron variant T/C snv 2.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3731201
rs3731201 		1.000 0.080 9 21988897 intron variant C/T snv 0.86
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3731201
rs3731201 		1.000 0.080 9 21988897 intron variant C/T snv 0.86
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3731211
rs3731211 		9 21986848 intron variant T/A snv 0.74
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3731215
rs3731215 		9 21985772 intron variant A/G snv 1.2E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012