Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913492
rs121913492
GNAQ
0.750 GeneticVariation BEFREE Moreover, the spectrum is distinct from that of uveal melanoma, in which alterations resulting in p.Q209R are very rare. 31336681

2019
dbSNP: rs121913492
rs121913492
GNAQ
0.750 GeneticVariation BEFREE Our findings reveal that the molecular properties of Gα<sub>q</sub> Q209P are fundamentally different from those in other active Gα<sub>q</sub> proteins and could be leveraged as a specific vulnerability for the ∼20% of UMs bearing this mutation. 30352874

2018
dbSNP: rs121913492
rs121913492
GNAQ
0.750 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
0.750 GeneticVariation BEFREE GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. 29490280

2018
dbSNP: rs121913492
rs121913492
GNAQ
0.750 GeneticVariation BEFREE Overall, this model offers a new tool to dissect signaling by oncogenic GNAQ and to test potential therapeutics in an in vivo setting where GNAQ(Q209L) mutations contribute to both the initiation and metastatic progression of uveal melanoma. 26113083

2015
dbSNP: rs121913492
rs121913492
GNAQ
G 0.750 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913492
rs121913492
GNAQ
A 0.750 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519853
rs1057519853
GNAQ
0.740 GeneticVariation BEFREE GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. 29490280

2018
dbSNP: rs1057519853
rs1057519853
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: rs1057519853
rs1057519853
GNAQ
0.740 GeneticVariation BEFREE Whereas Q209L accounts for approximately half of GNAQ mutations in UM, Q209P is as frequent as Q209L and also promotes oncogenesis, but has not been characterized at the molecular level. 30352874

2018
dbSNP: rs1057519853
rs1057519853
GNAQ
0.740 GeneticVariation BEFREE Overall, this model offers a new tool to dissect signaling by oncogenic GNAQ and to test potential therapeutics in an in vivo setting where GNAQ(Q209L) mutations contribute to both the initiation and metastatic progression of uveal melanoma. 26113083

2015
dbSNP: rs1057519853
rs1057519853
GNAQ
AA 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519742
rs1057519742
GNA11
0.730 GeneticVariation BEFREE GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma. 29490280

2018
dbSNP: rs1057519742
rs1057519742
GNA11
0.730 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: rs1057519742
rs1057519742
GNA11
0.730 GeneticVariation BEFREE Overall, this model offers a new tool to dissect signaling by oncogenic GNAQ and to test potential therapeutics in an in vivo setting where GNAQ(Q209L) mutations contribute to both the initiation and metastatic progression of uveal melanoma. 26113083

2015
dbSNP: rs1057519742
rs1057519742
GNA11
T 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519742
rs1057519742
GNA11
C 0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519742
rs1057519742
GNA11
T 0.730 GeneticVariation CLINVAR Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations. 24141786

2014
dbSNP: rs1057519742
rs1057519742
GNA11
T 0.730 GeneticVariation CLINVAR Therapeutic implications of the emerging molecular biology of uveal melanoma. 21444680

2011
dbSNP: rs10758299
rs10758299
RFX3
C 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
dbSNP: rs10985729
rs10985729
OR1B1
G 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
dbSNP: rs13013614
rs13013614
LRP1B
A 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
dbSNP: rs138663667
rs138663667
CACNA2D1
T 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
dbSNP: rs2242330
rs2242330
STAP1
G 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020
dbSNP: rs3759710
rs3759710
TDP1 ; EFCAB11
C 0.700 GeneticVariation GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034

2020