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: rs372670098
rs372670098 		9 21971153 missense variant T/C snv 9.5E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 12 1998 2015
dbSNP: rs587782792
rs587782792 		9 21971108 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 10 1998 2014
dbSNP: rs121913381
rs121913381 		9 21971037 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 1998 2011
dbSNP: rs730881677
rs730881677 		9 21971209 splice acceptor variant C/A;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2001 2016
dbSNP: rs1060501260
rs1060501260 		9 21971156 missense variant G/A;C snv 4.7E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1996 2011
dbSNP: rs1554656253
rs1554656253 		9 21974696 stop gained G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 1998 2007
dbSNP: rs1554654224
rs1554654224 		9 21971210 splice acceptor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2012 2017
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: 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: rs1057519852
rs1057519852 		9 21971030 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1060504185
rs1060504185 		9 21971116 missense variant G/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121913381
rs121913381 		9 21971037 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913382
rs121913382 		9 21971178 stop gained C/A;T snv 4.6E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913383
rs121913383 		9 21971154 stop gained C/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913389
rs121913389 		9 21971029 stop gained C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs1277299943
rs1277299943 		9 21974817 missense variant G/C snv 1.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs1377159790
rs1377159790 		9 21971203 start lost C/T snv 4.5E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs200429615
rs200429615 		9 21971138 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 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: 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