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: rs1060504185
rs1060504185
CDKN2A
9 21971116 missense variant G/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2011 2011
dbSNP: rs1277299943
rs1277299943
CDKN2A
9 21974817 missense variant G/C snv 1.3E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2001 2001
dbSNP: rs1377159790
rs1377159790
CDKN2A
9 21971203 start lost C/T snv 4.5E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs200429615
rs200429615
CDKN2A
9 21971138 missense variant T/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs45456595
rs45456595
CDKN2A
9 21974641 missense variant C/G snv 2.0E-03 2.1E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		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: 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: 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: 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: 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: 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: 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: 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: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		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: C0242379
Disease: Malignant neoplasm of lung
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: 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
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: C0279612
Disease: Childhood Embryonal Rhabdomyosarcoma
Childhood Embryonal Rhabdomyosarcoma 		0.010 1.000 1 2018 2018
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: 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: C0017638
Disease: Glioma
Glioma 		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: 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: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma 		0.010 1.000 1 2018 2018