Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519742
rs1057519742
T 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012

dbSNP: rs1057519742
rs1057519742
T 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012

dbSNP: rs1057519742
rs1057519742
C 0.750 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012

dbSNP: rs1057519742
rs1057519742
C 0.750 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012

dbSNP: rs1057519742
rs1057519742
T 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010

dbSNP: rs1057519742
rs1057519742
C 0.750 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010

dbSNP: rs1057519742
rs1057519742
C 0.750 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992

dbSNP: rs1057519742
rs1057519742
T 0.750 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992

dbSNP: rs1057519742
rs1057519742
T 0.750 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989

dbSNP: rs1057519742
rs1057519742
C 0.750 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989