Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931615
rs28931615
FGFR3
0.020 GeneticVariation BEFREE Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. 31016899

2019
dbSNP: rs28931615
rs28931615
FGFR3
0.020 GeneticVariation BEFREE A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. 8880573

1996