GNAQ, G protein subunit alpha q, 2776

N. diseases: 18; N. variants: 6
Disease: Sturge-Weber Syndrome ×
Source: CURATED ×
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: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		Neoplasms; Nervous System Diseases; Cardiovascular Diseases 0.880 1.000 1 2013 2019