CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: MELANOMA-PANCREATIC CANCER SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.700 GeneticVariation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883 2011
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.700 GeneticVariation CLINVAR CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. 12853981 2003
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.700 GeneticVariation CLINVAR Germline splicing mutations of CDKN2A predispose to melanoma. 14508519 2003
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.700 GeneticVariation CLINVAR Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome. 11815963 2002
dbSNP: rs45476696
rs45476696
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C1838547
Disease:
MELANOMA-PANCREATIC CANCER SYNDROME 		A 0.700 GeneticVariation CLINVAR Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 10627132 1998