Gene: FGFR1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554570706
rs1554570706
FGFR1
A 0.800 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744

2017
dbSNP: rs1554570706
rs1554570706
FGFR1
A 0.800 GeneticVariation CLINVAR Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. 16764984

2006
dbSNP: rs121909628
rs121909628
FGFR1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909635
rs121909635
FGFR1
T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909637
rs121909637
FGFR1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909640
rs121909640
FGFR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121909641
rs121909641
FGFR1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs121909644
rs121909644
FGFR1
A 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs121909645
rs121909645
FGFR1
T 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs1554564353
rs1554564353
FGFR1
A 0.700 GeneticVariation CLINVAR Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 28008864

2017
dbSNP: rs1554594114
rs1554594114
FGFR1
T 0.700 GeneticVariation CLINVAR Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations. 28008864

2017
dbSNP: rs1554570813
rs1554570813
FGFR1
A 0.700 CausalMutation CLINVAR Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 27502037

2016
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation. 25251565

2014
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population. 24497711

2013
dbSNP: rs515726225
rs515726225
FGFR1
A 0.700 CausalMutation CLINVAR Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys. 24204987

2013
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR FGFR1 Pfeiffer syndrome without craniosynostosis: an additional case report. 16957473

2006
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. 14613973

2004
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. 14564217

2003
dbSNP: rs1554552774
rs1554552774
FGFR1
T 0.700 CausalMutation CLINVAR Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230

2003
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. 10942429

2000
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature. 10861678

2000
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583

1995
dbSNP: rs121909627
rs121909627
FGFR1
C 0.700 CausalMutation CLINVAR A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. 7874169

1994
dbSNP: rs1060499663
rs1060499663
FGFR1
T 0.700 CausalMutation CLINVAR