Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913101
rs121913101
FGFR3
0.010 GeneticVariation BEFREE Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3. 28254233

2017
dbSNP: rs121913482
rs121913482
FGFR3
0.010 GeneticVariation BEFREE Among the known mutations of this gene, the C742T (R248C) mutation is the most common one associated with type 1 TD. 20569165

2011
dbSNP: rs121913478
rs121913478
FGFR2
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049

1998
dbSNP: rs121913485
rs121913485
FGFR3
0.010 GeneticVariation BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049

1998