FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869320694
rs869320694
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis 		C 0.810 GeneticVariation CLINVAR
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		A 0.800 GeneticVariation CLINVAR KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 26277103 2015
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs1554570706
rs1554570706
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder) 		0.800 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs397515481
rs397515481
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs398122945
rs398122945
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs398122946
rs398122946
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs869025669
rs869025669
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs869025670
rs869025670
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs869025671
rs869025671
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		G 0.800 CausalMutation CLINVAR Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014
dbSNP: rs869025671
rs869025671
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 		0.800 GeneticVariation UNIPROT Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. 24888332 2014