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: C0003081
Disease: Anisometropia
Anisometropia 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0542514
Disease: Blue sclera
Blue sclera 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0013595
Disease: Eczema
Eczema 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1859882
Disease: Pigmentation of the sclera
Pigmentation of the sclera 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0522035
Disease: Edema of the upper extremity
Edema of the upper extremity 		0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0332890
Disease: Congenital hemihypertrophy
Congenital hemihypertrophy 		0.700 0
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: 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: 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: 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: 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: 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