Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390

2008
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
dbSNP: rs121913105
rs121913105
FGFR3
0.710 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999