GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Abnormal color vision ×
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: C0234629
Disease: Abnormal color vision
Abnormal color vision 		0.700 0