rs397514698, GNAQ

N. diseases: 52
Disease: Capillary malformation (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
0.730 GeneticVariation BEFREE A somatic mutation of GNAQ (c.548G>A, p.Arg183Gln) plays a key role in capillary malformation development. 31532024 2019
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
0.730 GeneticVariation BEFREE Several studies confirm the GNAQ R183Q mutation in 90% of nonsyndromic and Sturge-Weber syndrome (SWS) capillary malformations. 30870248 2019
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
0.730 GeneticVariation BEFREE Eight capillary malformations contained GNAQ p.R183Q mutant cells, two lesions had novel GNAQ mutations (p.R183L and p.R183G), and three capillary malformations did not have a detectable GNAQ p.R183 mutation. 26368330 2016
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
0.730 CausalMutation CLINVAR