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: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 1997 1997
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: rs34886500
rs34886500
CDKN2A
0.925 0.080 9 21971064 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 1997 1997
dbSNP: rs1309566180
rs1309566180
CDKN2A
1.000 0.080 9 21971170 missense variant C/T snv
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		0.010 1.000 1 1998 1998
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: rs34886500
rs34886500
CDKN2A
0.925 0.080 9 21971064 missense variant G/A;C snv
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		0.010 1.000 1 1999 1999
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
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: 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: rs1329443726
rs1329443726
CDKN2A
1.000 0.080 9 21971097 frameshift variant C/- delins
CUI: C0025286
Disease: Meningioma
Meningioma 		0.010 1.000 1 2001 2001
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		0.010 1.000 1 2001 2001
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs878853645
rs878853645
CDKN2A
1.000 0.040 9 21971176 missense variant C/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2001 2001
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 1.000 1 2002 2002
dbSNP: rs104894095
rs104894095
CDKN2A
0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 1.000 1 2002 2002
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: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0205748
Disease: Dysplastic Nevus
Dysplastic Nevus 		0.010 1.000 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.010 < 0.001 1 2002 2002
dbSNP: rs3731249
rs3731249
CDKN2A
0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02
CUI: C0027960
Disease: Nevus
Nevus 		0.010 < 0.001 1 2002 2002
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: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 1.000 1 2002 2002
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2002 2002
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2002 2002
dbSNP: rs771138120
rs771138120
CDKN2A
0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2002 2002