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: rs775176191
rs775176191
CDKN2A
1.000 0.040 9 21974745 missense variant A/C snv
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
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: rs199907548
rs199907548
CDKN2A
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: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.050 1.000 5 2010 2018
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: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.020 1.000 2 2003 2010
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: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2010 2010
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		0.010 1.000 1 2014 2014
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C2697636
Disease: Hyperdiploid B Acute Lymphoblastic Leukemia
Hyperdiploid B Acute Lymphoblastic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs3731217
rs3731217
CDKN2A
0.763 0.320 9 21984662 intron variant A/C;T snv
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.010 1.000 1 2011 2011
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2008 2014
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2008 2014
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.020 1.000 2 2013 2014
dbSNP: rs2811709
rs2811709
CDKN2A
1.000 0.120 9 21980152 intron variant A/G snv 0.88
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2017 2017
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.010 1.000 1 2014 2014
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014
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: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs3731239
rs3731239
CDKN2A
0.763 0.240 9 21974219 intron variant A/G snv 0.26
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.010 1.000 1 2014 2014
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.050 1.000 5 1999 2015
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.710 1.000 1 1995 2013