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: C0232462
Disease: Decrease in appetite
Decrease in appetite 		Digestive System Diseases; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.010 1.000 1 2017 2017
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: C0003081
Disease: Anisometropia
Anisometropia 		Eye Diseases 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: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
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: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.070 0.857 7 2012 2019
dbSNP: rs1057519853
rs1057519853 		0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.040 0.750 4 2014 2019
dbSNP: rs1057519853
rs1057519853 		0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.030 1.000 3 2012 2018
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0206733
Disease: Strawberry nevus of skin
Strawberry nevus of skin 		Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs1057519853
rs1057519853 		0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1057519853
rs1057519853 		0.851 0.080 9 77794572 missense variant TG/AA mnv
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0346392
Disease: Nevus of choroid
Nevus of choroid 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0018916
Disease: Hemangioma
Hemangioma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs753716491
rs753716491 		1.000 0.120 9 77922196 missense variant T/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
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: C0027961
Disease: Nevus of Ota
Nevus of Ota 		Neoplasms 0.700 0
dbSNP: rs121913492
rs121913492 		0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs397514698
rs397514698 		0.667 0.400 9 77797577 missense variant C/T snv
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		Neoplasms; Cardiovascular Diseases 0.010 1.000 1 2019 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: 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: C0007933
Disease: Meibomian Cyst
Meibomian Cyst 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs753716491
rs753716491 		1.000 0.120 9 77922196 missense variant T/A snv
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
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