| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. | 26380986 | 2015 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.780 | CausalMutation | CLINVAR | ||||||
|
C | 0.780 | CausalMutation | CLINVAR | ||||||
|
G | 0.730 | CausalMutation | CLINVAR | ||||||
|
C | 0.720 | CausalMutation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | ||||||
|
C | 0.710 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. | 16912704 | 2006 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |