Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730880460
rs730880460
HRAS ; LRRC56
0.020 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825

2017
dbSNP: rs730880460
rs730880460
HRAS ; LRRC56
0.020 GeneticVariation BEFREE Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics. 28139825

2017
dbSNP: rs730880460
rs730880460
HRAS ; LRRC56
0.020 GeneticVariation BEFREE Panel testing for rasopathies identified a novel HRAS mutation (c.179G>A; p.Gly60Asp) in three individuals with attenuated features of Costello syndrome. 25914166

2015