CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3731249
rs3731249
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027651
Disease:
Neoplasms 		0.030 GeneticVariation BEFREE We report an undescribed p.(Ala148Thr) CDKN2A mutation in meningioma that was only present in relapsing tumors. 31729637 2019
dbSNP: rs3731249
rs3731249
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027651
Disease:
Neoplasms 		0.030 GeneticVariation BEFREE In univariable analysis, tumor stage (log rank P = 0.006) and grade (P < 0.001), HPV DNA (P < 0.004), Chromosome 9 loss (P = 0.04) and the A148T polymorphism (rs 3731249) in CDKN2A (P = 0.02) were associated with progression. 25142434 2014
dbSNP: rs3731249
rs3731249
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
CUI: C0027651
Disease:
Neoplasms 		0.030 GeneticVariation BEFREE By direct sequencing of polymerase chain reaction (PCR)-amplified microdissected genomic DNA; no somatic or germline p16INK4a point mutations or small deletions were detected in the remaining 34 tumour samples; one individual exhibited the previously described germline codon 148 (Ala-->Thr) polymorphism. 9536218 1998