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: rs104894094
rs104894094 		0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs104894097
rs104894097 		0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs104894097
rs104894097 		0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs104894109
rs104894109 		0.925 0.120 9 21971192 missense variant C/A;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1057519883
rs1057519883 		0.742 0.280 9 21971120 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1060501262
rs1060501262 		1.000 0.120 9 21994138 splice donor 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 0
dbSNP: rs1060501263
rs1060501263 		1.000 0.120 9 21971001 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: rs1060501263
rs1060501263 		1.000 0.120 9 21971001 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: rs1060501265
rs1060501265 		1.000 0.120 9 21974676 splice donor 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 0
dbSNP: rs1064794292
rs1064794292 		0.882 0.200 9 21974760 missense variant C/T snv
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
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: rs113798404
rs113798404 		0.925 0.080 9 21970995 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 0
dbSNP: rs113798404
rs113798404 		0.925 0.080 9 21970995 missense variant C/G;T snv
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs11552822
rs11552822 		1.000 9 21971109 missense variant C/A;T snv 4.3E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs116150891
rs116150891 		1.000 0.040 9 21970929 missense variant G/A;C snv 5.6E-04 2.6E-03
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.700 0
dbSNP: rs121913381
rs121913381 		9 21971037 missense variant C/A;T snv
CUI: C0027533
Disease: Neck Neoplasms
Neck Neoplasms 		Neoplasms 0.700 0
dbSNP: rs121913385
rs121913385 		0.763 0.240 9 21971112 missense variant G/A;C snv
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121913386
rs121913386 		0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs121913388
rs121913388 		0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs141798398
rs141798398 		1.000 0.120 9 21974793 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1554653915
rs1554653915 		1.000 0.120 9 21970966 splice donor variant GCGCAGGTACCGT/CGCATC 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: 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: rs1554654052
rs1554654052 		1.000 0.120 9 21971076 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: rs1554656624
rs1554656624 		1.000 0.120 9 21974798 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 0
dbSNP: rs1554659198
rs1554659198 		9 21994212 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0