| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | The GNAQ c.548G>A mutation was identified in the PG and in the respective underlying PWS, indicating that PGs originate from cells of the PWS. | 26802240 | 2016 |
||||
|
0.020 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |
||||
|
0.010 | GeneticVariation | BEFREE | A single-nucleotide variant(c.548G>A, p.Arg183Gln) in GNAQ was identified in the PWS-affected tissue but not in the normal skin sample. | 25188413 | 2014 |