Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691033
rs1131691033
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
A 0.700 CausalMutation CLINVAR Novel p53 splice site mutations in three families with Li-Fraumeni syndrome. 10980596

2000