Gene: FGFR3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78311289
rs78311289
FGFR3
G 0.890 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
T 0.730 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
C 0.730 CausalMutation CLINVAR

dbSNP: rs121913101
rs121913101
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913101
rs121913101
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs121913101
rs121913101
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913103
rs121913103
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913103
rs121913103
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913103
rs121913103
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913479
rs121913479
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913484
rs121913484
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs397515514
rs397515514
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation UNIPROT Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 7773297

1995
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation UNIPROT Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3). 8754806

1996
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3). 8754806

1996
dbSNP: rs78311289
rs78311289
FGFR3
0.890 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
dbSNP: rs121913105
rs121913105
FGFR3
0.730 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
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas. 10918587

2000
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000