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: 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: rs11552823
rs11552823
CDKN2A
1.000 0.040 9 21971117 missense variant G/A;C snv 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1999 1999
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: rs1554653960
rs1554653960
CDKN2A
0.925 0.040 9 21971007 missense variant C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1997 1997
dbSNP: rs35741010
rs35741010
CDKN2A
1.000 0.040 9 21971055 missense variant C/T snv 4.3E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2014 2014
dbSNP: rs550846229
rs550846229
CDKN2A
1.000 0.040 9 21974658 missense variant G/A;C snv 5.2E-05
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		0.010 1.000 1 2003 2003
dbSNP: rs6413464
rs6413464
CDKN2A
1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 < 0.001 1 2018 2018
dbSNP: rs755927351
rs755927351
CDKN2A
1.000 0.040 9 21970968 missense variant G/A snv 4.1E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs757066045
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive 		0.010 1.000 1 2013 2013
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
dbSNP: rs757066045
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06
CUI: C3887678
Disease: Central Nervous System Embryonal Tumor, Not Otherwise Specified
Central Nervous System Embryonal Tumor, Not Otherwise Specified 		0.010 1.000 1 2013 2013
dbSNP: rs757066045
rs757066045
CDKN2A
0.882 0.040 9 21974725 missense variant C/T snv 8.2E-06
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2013 2013
dbSNP: rs774829510
rs774829510
CDKN2A
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.010 1.000 1 1999 1999
dbSNP: rs774829510
rs774829510
CDKN2A
0.882 0.040 9 21971046 missense variant C/A;T snv
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		0.010 1.000 1 1999 1999