Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE Our data demonstrate that starvation-trigged autophagy, which is BRAF V600E dependent, promotes cancer cell survival in uveal melanoma. 27928645

2017
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE APCE is a separate entity distinguished from UM by the absence of SOX10 expression and presence of the BRAF V600E mutation. 29059311

2017
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE We wanted to gain an understanding of the role of GNAQ, GNA11 and BRAF V600E in the pathogenesis of uveal melanocytoma and in cases of transformation to uveal melanoma and also to perform a differential immunohistochemical study comparing melanocytoma with uveal melanoma. 23685997

2013
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE The T1799A point mutation is present in posterior uveal melanoma. 18985043

2008
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE Others have demonstrated a BRAF T1799A-activating mutation in cutaneous but not uveal melanoma. 15277467

2004