Source: BEFREE ×
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 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
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 Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012

dbSNP: rs1057519853
rs1057519853
0.030 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
0.030 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: rs1057519853
rs1057519853
0.030 GeneticVariation BEFREE Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas. 22733540

2012