Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881677
rs730881677
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A mutations with p14 loss predisposing to multiple nerve sheath tumours, melanoma, dysplastic naevi and internal malignancies: a case series and review of the literature. 26876133

2016
dbSNP: rs730881677
rs730881677
CDKN2A
G 0.700 CausalMutation CLINVAR High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families. 17167857

2006
dbSNP: rs730881677
rs730881677
CDKN2A
G 0.700 CausalMutation CLINVAR Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred. 12920094

2003
dbSNP: rs730881677
rs730881677
CDKN2A
G 0.700 CausalMutation CLINVAR CDKN2A germline splicing mutation affecting both p16(ink4) and p14(arf) RNA processing in a melanoma/neurofibroma kindred. 11433531

2001