rs397514698, GNAQ

N. diseases: 52
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Meibomian Cyst
CUI: C0007933
Disease: Meibomian Cyst
3 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Nevus of Ota
CUI: C0027961
Disease: Nevus of Ota
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Pain
CUI: C0030193
Disease: Pain
196 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Pigmentation of the sclera
CUI: C1859882
Disease: Pigmentation of the sclera
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Poor wound healing
CUI: C1851789
Disease: Poor wound healing
3 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Prominent superficial veins
CUI: C1837785
Disease: Prominent superficial veins
3 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Skin Diseases, Vascular
CUI: C0162819
Disease: Skin Diseases, Vascular
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Skin Ulcer
CUI: C0037299
Disease: Skin Ulcer
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Tremor
CUI: C0040822
Disease: Tremor
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Vascular tortuosity
CUI: C2673776
Disease: Vascular tortuosity
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Sturge-Weber Syndrome
CUI: C0038505
Disease: Sturge-Weber Syndrome
2 0.667 0.400 9 77797577 missense variant C/T snv 0.880 1.000 8 2013 2019
Capillary malformation (disorder)
CUI: C0340803
Disease: Capillary malformation (disorder)
13 0.667 0.400 9 77797577 missense variant C/T snv 0.730 1.000 3 2016 2019
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.667 0.400 9 77797577 missense variant C/T snv 0.720 1.000 2 2014 2017
Prader-Willi Syndrome
CUI: C0032897
Disease: Prader-Willi Syndrome
8 0.667 0.400 9 77797577 missense variant C/T snv 0.020 1.000 2 2014 2016
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.667 0.400 9 77797577 missense variant C/T snv 0.020 1.000 2 2014 2017
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
Cutaneous vascular malformation
CUI: C1302793
Disease: Cutaneous vascular malformation
1 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Deformity
CUI: C0302142
Disease: Deformity
26 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2013 2013
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Glaucoma
CUI: C0017601
Disease: Glaucoma
198 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017
Hemangioma of choroid
CUI: C0346390
Disease: Hemangioma of choroid
2 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2019 2019
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2017 2017