Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
CUI: C0025202
Disease: melanoma
melanoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs121909233
rs121909233
PTEN ; KLLN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909234
rs121909234
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs121909234
rs121909234
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909232
rs121909232
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587780004
rs587780004
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		0.010 GeneticVariation BEFREE We observe selection for low-abundance PTEN variants in cancer, and show that p.Pro38Ser, which accounts for ~10% of PTEN missense variants in melanoma, functions via a dominant-negative mechanism. 29785012

2018