CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Hereditary Melanoma ×
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: rs754806883
rs754806883 		0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-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 8 1947 2014
dbSNP: rs878853650
rs878853650 		0.925 0.120 9 21974733 missense variant A/G snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 8 1995 2017
dbSNP: rs104894094
rs104894094 		0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-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 7 2000 2011
dbSNP: rs104894098
rs104894098 		0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 7 1995 2013
dbSNP: rs1064794292
rs1064794292 		0.882 0.200 9 21974760 missense variant C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 1998 2014
dbSNP: rs1563889584
rs1563889584 		1.000 0.120 9 21971121 frameshift variant G/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2011
dbSNP: rs768966657
rs768966657 		1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 1996 2016
dbSNP: rs864622263
rs864622263 		1.000 0.120 9 21974781 missense variant A/C;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 2004 2011
dbSNP: rs864622636
rs864622636 		1.000 0.120 9 21974680 stop gained G/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 7 1996 2015
dbSNP: rs1554656411
rs1554656411 		1.000 0.120 9 21974749 stop gained C/A snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 6 2004 2017
dbSNP: rs141798398
rs141798398 		1.000 0.120 9 21974793 stop gained G/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 5 2004 2017
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: rs1131691187
rs1131691187 		1.000 0.120 9 21974696 frameshift variant G/- del
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 2004 2016
dbSNP: rs121913387
rs121913387 		0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-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 1994 2014
dbSNP: rs199907548
rs199907548 		0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
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 1999 2012
dbSNP: rs1287464120
rs1287464120 		1.000 0.120 9 21994235 stop gained C/A;T snv 1.7E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2001 2007
dbSNP: rs1563902931
rs1563902931 		1.000 0.120 9 21994274 frameshift variant C/- del
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2001 2007
dbSNP: rs730881674
rs730881674 		1.000 0.120 9 21971116 frameshift variant GTGAGAGTGGCGGGGTCGG/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2004 2010
dbSNP: rs779306249
rs779306249 		1.000 0.120 9 21994234 frameshift variant -/C delins 1.7E-05 1.4E-05
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2001 2007
dbSNP: rs876658556
rs876658556 		1.000 0.120 9 21974784 stop gained C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2007
dbSNP: rs1563892715
rs1563892715 		1.000 0.120 9 21974759 frameshift variant A/- del
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2004 2007
dbSNP: rs587782083
rs587782083 		1.000 0.120 9 21994134 splice region variant C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2014 2015
dbSNP: rs730881673
rs730881673 		1.000 0.120 9 21974696 stop gained -/T;TT delins 4.0E-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 2 2004 2007
dbSNP: rs1034265990
rs1034265990 		0.925 0.120 9 21971123 missense variant G/A;T snv 4.4E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1131691186
rs1131691186 		0.925 0.120 9 21974761 missense variant C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007