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: rs121913484
rs121913484
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
T 0.800 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0334082
Disease:
NEVUS, EPIDERMAL (disorder)
0.800 GeneticVariation UNIPROT
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
A 0.800 CausalMutation CLINVAR
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0005684
Disease:
Malignant neoplasm of urinary bladder
C 0.800 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
A 0.780 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
C 0.780 CausalMutation CLINVAR
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
G 0.750 CausalMutation CLINVAR
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0001080
Disease:
Achondroplasia
A 0.750 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease:
Thanatophoric dysplasia, type 2
T 0.730 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1300257
Disease:
Thanatophoric dysplasia, type 2
C 0.730 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1856266
Disease:
Coronal craniosynostosis
G 0.730 CausalMutation CLINVAR
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0026764
Disease:
Multiple Myeloma
G 0.730 CausalMutation CLINVAR
dbSNP: rs80053154
rs80053154
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
G 0.730 CausalMutation CLINVAR
dbSNP: rs121913101
rs121913101
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
A 0.720 CausalMutation CLINVAR
dbSNP: rs121913101
rs121913101
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
G 0.720 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
C 0.720 CausalMutation CLINVAR
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
A 0.720 CausalMutation CLINVAR
dbSNP: rs121913115
rs121913115
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
G 0.710 CausalMutation CLINVAR
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia
T 0.710 CausalMutation CLINVAR
dbSNP: rs1453271838
rs1453271838
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0265269
Disease:
Lacrimoauriculodentodigital syndrome
A 0.710 CausalMutation CLINVAR
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1868678
Disease:
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
G 0.710 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C2931196
Disease:
Craniofacial dysostosis type 1
G 0.710 CausalMutation CLINVAR
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0221357
Disease:
Brachydactyly
G 0.710 CausalMutation CLINVAR
dbSNP: rs77722678
rs77722678
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
C 0.710 CausalMutation CLINVAR