Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
TG | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
GACGT | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. | 9771708 | 1998 |
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|
T | 0.710 | CausalMutation | CLINVAR | Inactivating PAPSS2 mutations in a patient with premature pubarche. | 19474428 | 2009 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Inactivating PAPSS2 mutations in a patient with premature pubarche. | 19474428 | 2009 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | PAPSS2 mutations cause autosomal recessive brachyolmia. | 22791835 | 2012 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. | 23633440 | 2013 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. | 23824674 | 2013 |