GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
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: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		Neoplasms; Nervous System Diseases; Cardiovascular Diseases 0.880 1.000 8 2013 2019
dbSNP: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.750 1.000 6 2014 2019
dbSNP: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.740 1.000 12 1989 2018
dbSNP: rs1057519853
rs1057519853 		0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.740 0.800 5 2014 2018
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.730 1.000 3 2016 2019
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
dbSNP: rs10116186
rs10116186 		9 77917458 intron variant A/C;G snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11145656
rs11145656 		9 78024379 intron variant C/T snv 0.41
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs13291723
rs13291723 		9 77895161 intron variant G/A snv 0.44
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0241657
Disease: Abnormality of the vasculature
Abnormality of the vasculature 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		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 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		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 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0522035
Disease: Edema of the upper extremity
Edema of the upper extremity 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C2673776
Disease: Vascular tortuosity
Vascular tortuosity 		0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0003081
Disease: Anisometropia
Anisometropia 		Eye Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0239340
Disease: Edema of lower extremity
Edema of lower extremity 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0005741
Disease: Blepharitis
Blepharitis 		Eye Diseases 0.700 0
dbSNP: rs397514698
rs397514698 		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