Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514698
rs397514698
GNAQ
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
dbSNP: rs397514698
rs397514698
GNAQ
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