Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs121913492
rs121913492
GNAQ
C 0.740 CausalMutation CLINVAR Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. 22653968

2012
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748

2012
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. 22253748

2012
dbSNP: rs121913492
rs121913492
GNAQ
C 0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078

2008
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078

2008
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs121913492
rs121913492
GNAQ
0.740 GeneticVariation BEFREE The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side. 26368812

2015
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. 22653968

2012
dbSNP: rs121913492
rs121913492
GNAQ
0.740 GeneticVariation BEFREE Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs121913492
rs121913492
GNAQ
C 0.740 CausalMutation CLINVAR Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype. 22808163

2012
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957

2009
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. 1328859

1992
dbSNP: rs121913492
rs121913492
GNAQ
0.740 GeneticVariation BEFREE Sequencing of melanoma driver genes revealed GNAQ (p.Q209L) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma. 30558566

2018
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Oncogenic mutations in GNAQ occur early in uveal melanoma. 18719078

2008
dbSNP: rs121913492
rs121913492
GNAQ
C 0.740 CausalMutation CLINVAR GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. 2549426

1989
dbSNP: rs121913492
rs121913492
GNAQ
A 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways. 22653968

2012
dbSNP: rs121913492
rs121913492
GNAQ
C 0.740 CausalMutation CLINVAR Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010
dbSNP: rs121913492
rs121913492
GNAQ
G 0.740 CausalMutation CLINVAR Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 19078957

2009