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: rs1060501266
rs1060501266
CDKN2A
1.000 0.120 9 21968347 intron variant T/C snv 7.0E-06
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.700 1.000 4 2001 2012
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: 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: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 1.000 5 1998 2011
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: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
MELANOMA-PANCREATIC CANCER SYNDROME 		0.700 1.000 12 1994 2015
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: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.710 1.000 6 1995 2013
dbSNP: rs104894098
rs104894098
CDKN2A
0.851 0.200 9 21970982 missense variant A/T snv
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 		0.800 1.000 0 1994 2009
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: rs1563888944
rs1563888944
CDKN2A
1.000 0.120 9 21970998 frameshift variant -/TC delins
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: 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: rs1554653976
rs1554653976
CDKN2A
9 21971015 frameshift variant -/GGGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2011
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2014 2014
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs121913386
rs121913386
CDKN2A
0.807 0.120 9 21971018 missense variant G/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs104894104
rs104894104
CDKN2A
0.790 0.160 9 21971019 missense variant G/A;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016