| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. | 9452043 | 1998 |
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|
G | 0.700 | CausalMutation | CLINVAR | Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). | 8845844 | 1996 |
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|
C | 0.700 | CausalMutation | CLINVAR | Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. | 8723101 | 1996 |
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|
A | 0.700 | CausalMutation | CLINVAR | A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans. | 8880573 | 1996 |
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|
G | 0.700 | CausalMutation | CLINVAR | Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. | 8589699 | 1995 |
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|
A | 0.700 | CausalMutation | CLINVAR | Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. | 7493034 | 1995 |
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|
A | 0.700 | CausalMutation | CLINVAR | A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. | 7670477 | 1995 |
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|
G | 0.700 | CausalMutation | CLINVAR | A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. | 7670477 | 1995 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | A common FGFR3 gene mutation in hypochondroplasia. | 8589686 | 1995 |
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|
G | 0.700 | CausalMutation | CLINVAR | A common FGFR3 gene mutation in hypochondroplasia. | 8589686 | 1995 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR |