Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034265990
rs1034265990
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE POT1 p.I78T is a newly identified, likely pathogenic, variant meriting screening for in families with melanoma after more common predisposition genes such as CDKN2A have been excluded. 30586141

2019