Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.880 1.000 0 2013 2019
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		0.730 1.000 0 2016 2019
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		0.720 1.000 0 2014 2017
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0013404
Disease: Dyspnea
Dyspnea 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0041834
Disease: Erythema
Erythema 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0027961
Disease: Nevus of Ota
Nevus of Ota 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0005741
Disease: Blepharitis
Blepharitis 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
Macular hyperpigmented dermopathy 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C4476886
Disease: Abnormal vena cava morphology
Abnormal vena cava morphology 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1851789
Disease: Poor wound healing
Poor wound healing 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1837785
Disease: Prominent superficial veins
Prominent superficial veins 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		0.700 0