FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
C 0.900 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
A 0.900 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864436
Disease:
Muenke Syndrome
G 0.900 CausalMutation CLINVAR
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease:
Thanatophoric dysplasia, type 2
G 0.890 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2674173
Disease:
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
C 0.850 CausalMutation CLINVAR
dbSNP: rs75790268
rs75790268
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
T 0.850 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
C 0.840 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
T 0.840 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
T 0.840 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
0.840 GeneticVariation UNIPROT
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
T 0.830 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
G 0.820 CausalMutation CLINVAR
dbSNP: rs121913485
rs121913485
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
G 0.820 CausalMutation CLINVAR
dbSNP: rs121913479
rs121913479
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
T 0.810 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
G 0.810 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
C 0.800 CausalMutation CLINVAR
dbSNP: rs121913111
rs121913111
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0009402
Disease:
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913111
rs121913111
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913112
rs121913112
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913113
rs121913113
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1864852
Disease:
CATSHL syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs121913479
rs121913479
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs121913479
rs121913479
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
T 0.800 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0022603
Disease:
Seborrheic keratosis
T 0.800 CausalMutation CLINVAR
dbSNP: rs121913483
rs121913483
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0022603
Disease:
Seborrheic keratosis
G 0.800 CausalMutation CLINVAR