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: rs1563888944
rs1563888944
CDKN2A
1.000 0.120 9 21970998 frameshift variant -/TC delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1563889847
rs1563889847
CDKN2A
1.000 0.120 9 21971161 frameshift variant -/T delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
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: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.700 0
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: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs199907548
rs199907548
CDKN2A
0.882 0.160 9 21974682 missense variant A/C;G snv 6.3E-04
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs36204594
rs36204594
CDKN2A
1.000 0.040 9 21971180 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs372266620
rs372266620
CDKN2A
0.925 0.120 9 21971189 missense variant G/A;C;T snv 9.1E-05; 2.3E-05; 9.1E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs387906410
rs387906410
CDKN2A
0.882 0.080 9 21971019 missense variant GC/AG mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs387906410
rs387906410
CDKN2A
0.882 0.080 9 21971019 missense variant GC/AG mnv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs398123152
rs398123152
CDKN2A
1.000 0.120 9 21974721 frameshift variant -/C delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs398123152
rs398123152
CDKN2A
1.000 0.120 9 21974721 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587776716
rs587776716
CDKN2A
0.925 0.160 9 21971115 frameshift variant CGGGTCGGGTGAGAGTGGC/- del
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs587776716
rs587776716
CDKN2A
0.925 0.160 9 21971115 frameshift variant CGGGTCGGGTGAGAGTGGC/- del
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 0
dbSNP: rs587780668
rs587780668
CDKN2A
0.925 0.120 9 21974796 start lost GGCTCCATGCTGCTCCCCGCCGCC/-;GGCTCCATGCTGCTCCCCGCCGCCGGCTCCATGCTGCTCCCCGCCGCC delins 1.5E-04
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs6413463
rs6413463
CDKN2A
1.000 0.040 9 21970990 missense variant A/G;T snv 2.9E-05; 3.0E-04
CUI: C0023418
Disease: leukemia
leukemia 		0.700 0
dbSNP: rs6413464
rs6413464
CDKN2A
1.000 0.040 9 21970980 missense variant C/A;G snv 1.3E-03; 4.1E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 0
dbSNP: rs730881672
rs730881672
CDKN2A
9 21974781 protein altering variant -/GCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs747621669
rs747621669
CDKN2A
9 21970988 missense variant C/T snv 4.1E-06
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.700 0
dbSNP: rs749714198
rs749714198
CDKN2A
0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 0
dbSNP: rs749714198
rs749714198
CDKN2A
0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs754806883
rs754806883
CDKN2A
0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs754806883
rs754806883
CDKN2A
0.925 0.160 9 21971063 missense variant C/A;G;T snv 4.3E-06; 8.5E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs757497674
rs757497674
CDKN2A
1.000 0.080 9 21970958 missense variant G/A snv 4.1E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs760065045
rs760065045
CDKN2A
1.000 0.080 9 21974770 missense variant C/A;G snv 4.3E-06
CUI: C0005426
Disease: Biliary Tract Neoplasm
Biliary Tract Neoplasm 		0.700 0