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: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 2014 2017
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: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2015 2015
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2009 2009
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: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2013 2013
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0948750
Disease: Salivary gland carcinoma
Salivary gland carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 1.000 1 2011 2011
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C2678061
Disease: SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT 		0.010 1.000 1 2011 2011
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 < 0.001 1 2017 2017
dbSNP: rs3088440
rs3088440
CDKN2A ; CDKN2A-DT
0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 < 0.001 1 2017 2017
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		0.010 < 0.001 1 2014 2014
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 < 0.001 1 2014 2014
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2017 2017
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2011 2011
dbSNP: rs1210653597
rs1210653597
CDKN2A
0.925 0.120 9 21968756 missense variant T/C snv
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs1210653597
rs1210653597
CDKN2A
0.925 0.120 9 21968756 missense variant T/C snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2010 2010
dbSNP: rs1390902532
rs1390902532
CDKN2A
1.000 0.040 9 21968766 missense variant T/C snv 7.4E-06 7.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2011 2011
dbSNP: rs1390902532
rs1390902532
CDKN2A
1.000 0.040 9 21968766 missense variant T/C snv 7.4E-06 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2011 2011
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.060 0.667 6 2002 2011
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.030 1.000 3 2015 2018
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 1.000 3 1998 2019