Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894094
rs104894094
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501263
rs1060501263
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1131691188
rs1131691188
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
GC 0.700 CausalMutation CLINVAR
dbSNP: rs141798398
rs141798398
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR
dbSNP: rs1554653976
rs1554653976
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
ACGGG 0.700 CausalMutation CLINVAR
dbSNP: rs1554659198
rs1554659198
Entrez Id: 1029;100048912
Gene Symbol: CDKN2A;CDKN2B-AS1
CDKN2A;CDKN2B-AS1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 CausalMutation CLINVAR
dbSNP: rs36204594
rs36204594
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 GeneticVariation CLINVAR
dbSNP: rs387906410
rs387906410
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AG 0.700 CausalMutation CLINVAR
dbSNP: rs398123152
rs398123152
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
GC 0.700 CausalMutation CLINVAR
dbSNP: rs587780668
rs587780668
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 GeneticVariation CLINVAR
dbSNP: rs730881672
rs730881672
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AGCC 0.700 CausalMutation CLINVAR
dbSNP: rs749714198
rs749714198
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
A 0.700 GeneticVariation CLINVAR
dbSNP: rs754806883
rs754806883
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR
dbSNP: rs876658220
rs876658220
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR
dbSNP: rs876658511
rs876658511
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs878853647
rs878853647
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR
dbSNP: rs104894097
rs104894097
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6. 17909018 2007
dbSNP: rs104894098
rs104894098
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
T 0.700 CausalMutation CLINVAR A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. 11506491 2001
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR A novel methionine-53-valine mutation of p16 in a hereditary melanoma kindred. 15304098 2004
dbSNP: rs104894099
rs104894099
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
C 0.700 GeneticVariation CLINVAR A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. 12700603 2003
dbSNP: rs199907548
rs199907548
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Analysis of p16INK4a and its interaction with CDK4. 8573142 1996
dbSNP: rs587780668
rs587780668
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
AGGCTCCATGCTGCTCCCCGCCGCC 0.700 CausalMutation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844 1997
dbSNP: rs878853650
rs878853650
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 GeneticVariation CLINVAR Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds. 9416844 1997
dbSNP: rs104894095
rs104894095
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds. 8570179 1995