Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.090 0.889 9 2006 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.050 1.000 5 2012 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.030 1.000 3 2007 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.020 1.000 2 2011 2018
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		0.020 1.000 2 2014 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2002 2006
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2007 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		0.020 1.000 2 2013 2013
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 1.000 2 2014 2016
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C4237343
Disease: Overweight or obesity
Overweight or obesity 		0.010 1.000 1 2013 2013
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever 		0.010 1.000 1 2012 2012
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure 		0.010 1.000 1 2012 2012
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute 		0.010 1.000 1 2012 2012
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.010 1.000 1 2011 2011
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		0.010 1.000 1 2011 2011
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2015 2015
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2007 2007
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.010 1.000 1 2005 2005
dbSNP: rs1444669684
rs1444669684
CDKN2A ; CDKN2B-AS1
0.658 0.480 9 21994285 missense variant C/A;T snv
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		0.010 1.000 1 2013 2013