Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712

2017
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 24476948

2014
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846

2008
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). 8845844

1996