Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913492
rs121913492
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
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
0.740 GeneticVariation BEFREE Intriguingly, enforced expression of GNAQ(Q209L) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ(Q209) mutations in human epithelial melanomas. 26113083

2015

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

2012

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

2012

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

2012

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

2012

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

2010

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

2010

dbSNP: rs121913492
rs121913492
C 0.740 CausalMutation CLINVAR Mutations in GNA11 in uveal melanoma. 21083380

2010

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

2009

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

2009

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

2009

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

2008

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

2008

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

2008