| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. | 12567415 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. | 12567415 | 2003 |
||||
|
0.800 | GeneticVariation | UNIPROT | X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. | 9409863 | 1997 |
||||
|
0.800 | GeneticVariation | UNIPROT | X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. | 9409863 | 1997 |
||||
|
0.800 | GeneticVariation | UNIPROT | A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. | 7720070 | 1995 |
||||
|
0.800 | GeneticVariation | UNIPROT | A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. | 7720070 | 1995 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |