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: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2010 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 1.000 3 2015 2018
dbSNP: rs3731246
rs3731246
CDKN2A
0.882 0.120 9 21971990 intron variant C/G snv 0.11
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		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: 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 1.000 2 2007 2016
dbSNP: rs199907548
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs2518720
rs2518720
CDKN2A
0.925 0.080 9 21978980 intron variant C/T snv 0.43
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 1.000 1 2012 2012
dbSNP: rs4074785
rs4074785
CDKN2A
1.000 0.080 9 21981584 intron variant G/A snv 0.12
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		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: 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: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.010 1.000 1 2007 2007
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2017 2018
dbSNP: rs3731246
rs3731246
CDKN2A
0.882 0.120 9 21971990 intron variant C/G snv 0.11
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs1453633223
rs1453633223
CDKN2A
0.807 0.080 9 21974503 missense variant C/T snv 4.0E-06
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2017 2017
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.010 1.000 1 2019 2019
dbSNP: rs774829510
rs774829510
CDKN2A
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		0.010 1.000 1 1999 1999
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: rs2518720
rs2518720
CDKN2A
0.925 0.080 9 21978980 intron variant C/T snv 0.43
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 1.000 1 2014 2014
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs757066045
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2013 2013