Source: CLINVAR

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: rs104894094
rs104894094
CDKN2A
0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C1835042
Disease: Melanoma astrocytoma syndrome
Melanoma astrocytoma syndrome 		0.700 0
dbSNP: rs104894097
rs104894097
CDKN2A
0.807 0.240 9 21974757 missense variant C/A;G;T snv 1.7E-05; 1.3E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs104894109
rs104894109
CDKN2A
0.925 0.120 9 21971192 missense variant C/A;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs1060501262
rs1060501262
CDKN2A ; CDKN2B-AS1
1.000 0.120 9 21994138 splice donor variant C/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1060501263
rs1060501263
CDKN2A
1.000 0.120 9 21971001 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501263
rs1060501263
CDKN2A
1.000 0.120 9 21971001 frameshift variant C/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1060501265
rs1060501265
CDKN2A
1.000 0.120 9 21974676 splice donor variant A/G snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1131691188
rs1131691188
CDKN2A
9 21974782 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs113798404
rs113798404
CDKN2A
0.925 0.080 9 21970995 missense variant C/G;T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 0
dbSNP: rs121913388
rs121913388
CDKN2A
0.925 0.040 9 21971121 stop gained G/A;C snv 4.4E-06
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.700 0
dbSNP: rs141798398
rs141798398
CDKN2A
1.000 0.120 9 21974793 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554653915
rs1554653915
CDKN2A
1.000 0.120 9 21970966 splice donor variant GCGCAGGTACCGT/CGCATC delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1554653976
rs1554653976
CDKN2A
9 21971015 frameshift variant -/GGGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1554654052
rs1554654052
CDKN2A
1.000 0.120 9 21971076 frameshift variant C/- delins
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1554656624
rs1554656624
CDKN2A
1.000 0.120 9 21974798 frameshift variant C/- del
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 0
dbSNP: rs1554659198
rs1554659198
CDKN2A ; CDKN2B-AS1
9 21994212 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
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: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		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: 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: 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: 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: 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