GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Port-Wine Stain ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 2 2014 2017