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: rs779707422
rs779707422
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis
0.820 GeneticVariation UNIPROT
dbSNP: rs779707422
rs779707422
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis
T 0.820 GeneticVariation CLINVAR
dbSNP: rs779707422
rs779707422
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis
T 0.820 CausalMutation CLINVAR
dbSNP: rs869320694
rs869320694
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis
C 0.810 CausalMutation CLINVAR
dbSNP: rs869320694
rs869320694
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0406612
Disease:
Encephalocraniocutaneous lipomatosis
C 0.810 GeneticVariation CLINVAR
dbSNP: rs121909627
rs121909627
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0795998
Disease:
JACKSON-WEISS SYNDROME
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121909631
rs121909631
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease:
Osteoglophonic dwarfism
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909632
rs121909632
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease:
Osteoglophonic dwarfism
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909634
rs121909634
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0432283
Disease:
Osteoglophonic dwarfism
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909635
rs121909635
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121909637
rs121909637
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121909640
rs121909640
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909641
rs121909641
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
A 0.800 GeneticVariation CLINVAR
dbSNP: rs121909644
rs121909644
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs121909645
rs121909645
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs869025670
rs869025670
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1845146
Disease:
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
G 0.800 GeneticVariation CLINVAR
dbSNP: rs1060499663
rs1060499663
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
T 0.700 CausalMutation CLINVAR
dbSNP: rs1085307879
rs1085307879
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
0.700 GeneticVariation UNIPROT
dbSNP: rs1131691929
rs1131691929
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
0.700 GeneticVariation UNIPROT
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0342384
Disease:
Idiopathic hypogonadotropic hypogonadism
A 0.700 GeneticVariation CLINVAR
dbSNP: rs121909628
rs121909628
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C0034012
Disease:
Delayed Puberty
A 0.700 GeneticVariation CLINVAR
dbSNP: rs121909629
rs121909629
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C4016104
Disease:
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs121909630
rs121909630
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C4016104
Disease:
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
A 0.700 CausalMutation CLINVAR
dbSNP: rs121909636
rs121909636
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
CUI: C1563720
Disease:
Kallmann Syndrome 2 (disorder)
A 0.700 CausalMutation CLINVAR