Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514698
rs397514698
GNAQ
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
dbSNP: rs397514698
rs397514698
GNAQ
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
dbSNP: rs397514698
rs397514698
GNAQ
T 0.720 CausalMutation CLINVAR

dbSNP: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554504663
rs1554504663
RHOBTB2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555429629
rs1555429629
RAD51
A 0.700 GeneticVariation CLINVAR

dbSNP: rs77078070
rs77078070
KLHL7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs780533096
rs780533096
MIPEP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR

dbSNP: rs886041065
rs886041065
ASXL2
T 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE BRAF V600E mutations were recently identified in some pyogenic granulomas of skin, particularly lesions arising in patients with port wine stains. 29406329

2019
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE BRAF V600E mutations were recently identified in some pyogenic granulomas of skin, particularly lesions arising in patients with port wine stains. 29406329

2019