rs397514698, GNAQ

N. diseases: 52
Disease: Port-Wine Stain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
0.720 GeneticVariation BEFREE Here, we reported a case of Sturge-Weber Syndrome (SWS) manifesting cutaneous vascular malformations (hemifacial Port-wine stain), cerebral and ocular vascular abnormalities (including epilepsy and glaucoma) and harboring a c.548G>A (p.R183Q) somatic mosaic mutation in GNAQ. 28779688 2017
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
0.720 GeneticVariation BEFREE Previously, the recurrent somatic mutation c.548G>A (p.R183Q) in the G-α q gene (GNAQ) was identified as causative in SWS and non-syndromic port-wine stain patients using whole-genome sequencing. 25374402 2014
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
0.720 CausalMutation CLINVAR