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: rs768966657
rs768966657 		1.000 0.120 9 21971021 inframe insertion -/ACG delins 1.3E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 1996 2016
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: 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: rs1131691188
rs1131691188 		9 21974782 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398123152
rs398123152 		1.000 0.120 9 21974721 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs398123152
rs398123152 		1.000 0.120 9 21974721 frameshift variant -/C delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730881672
rs730881672 		9 21974781 protein altering variant -/GCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554653976
rs1554653976 		9 21971015 frameshift variant -/GGGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1563889847
rs1563889847 		1.000 0.120 9 21971161 frameshift variant -/T delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs730881673
rs730881673 		1.000 0.120 9 21974696 stop gained -/T;TT delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1998 2014
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: rs1563888944
rs1563888944 		1.000 0.120 9 21970998 frameshift variant -/TC delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
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: rs775176191
rs775176191 		1.000 0.040 9 21974745 missense variant A/C snv
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs199907548
rs199907548 		0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 14 1994 2016
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: rs199907548
rs199907548 		0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs199907548
rs199907548 		0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 1.000 1 2012 2012
dbSNP: rs199907548
rs199907548 		0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs104894099
rs104894099 		0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs104894099
rs104894099 		0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 10 1998 2016
dbSNP: rs104894099
rs104894099 		0.851 0.200 9 21971183 missense variant A/C;T 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 9 1998 2016
dbSNP: rs104894099
rs104894099 		0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 8 1998 2011
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: rs864622263
rs864622263 		1.000 0.120 9 21974781 missense variant A/C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1998 2011