Source: CURATED

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: rs749714198
rs749714198
CDKN2A
0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 12 1994 2016
dbSNP: rs749714198
rs749714198
CDKN2A
0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs758389471
rs758389471
CDKN2A
0.882 0.080 9 21971160 missense variant C/G;T snv 4.7E-06; 4.7E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs760640852
rs760640852
CDKN2A
1.000 9 21971139 missense variant C/A;G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs876658534
rs876658534
CDKN2A
0.925 0.120 9 21971156 missense variant GC/AA mnv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs878853647
rs878853647
CDKN2A
0.882 0.120 9 21971099 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 12 1994 2009
dbSNP: rs878853650
rs878853650
CDKN2A
0.925 0.120 9 21974733 missense variant A/G snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 1.000 12 1994 2009
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.800 1.000 11 1994 2016
dbSNP: rs1554653956
rs1554653956
CDKN2A
1.000 0.120 9 21971004 frameshift variant CCAGGTCCACGGGCAG/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 11 1995 2016
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 1.000 10 1998 2016
dbSNP: rs104894109
rs104894109
CDKN2A
0.925 0.120 9 21971192 missense variant C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 10 1998 2014
dbSNP: rs587782792
rs587782792
CDKN2A
9 21971108 missense variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 1998 2014
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1994 2013
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 9 1998 2016
dbSNP: rs104894109
rs104894109
CDKN2A
0.925 0.120 9 21971192 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1998 2011
dbSNP: rs587780668
rs587780668
CDKN2A
0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 9 1995 2015
dbSNP: rs876658534
rs876658534
CDKN2A
0.925 0.120 9 21971156 missense variant GC/AA mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 9 1998 2011
dbSNP: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 8 2000 2011
dbSNP: rs104894099
rs104894099
CDKN2A
0.851 0.200 9 21971183 missense variant A/C;T snv 4.6E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2011
dbSNP: rs1800586
rs1800586
CDKN2A
0.851 0.240 9 21974861 5 prime UTR variant C/A;G;T snv 4.3E-05; 6.1E-05; 8.7E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 8 1999 2010
dbSNP: rs34968276
rs34968276
CDKN2A
0.776 0.240 9 21971110 stop gained G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1999 2017
dbSNP: rs45476696
rs45476696
CDKN2A
0.925 0.200 9 21970902 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1998 2015
dbSNP: rs45476696
rs45476696
CDKN2A
0.925 0.200 9 21970902 stop gained C/A;T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 8 1998 2015
dbSNP: rs559848002
rs559848002
CDKN2A
0.925 0.120 9 21971147 missense variant T/C;G snv 4.7E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 8 1994 2012
dbSNP: rs587778189
rs587778189
CDKN2A
1.000 9 21974679 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 2002 2013