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.
Congenital hemihypertrophy
CUI: C0332890
Disease: Congenital hemihypertrophy
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Decrease in appetite
CUI: C0232462
Disease: Decrease in appetite
7 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Easy fatigability
CUI: C1837098
Disease: Easy fatigability
5 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Edema of lower extremity
CUI: C0239340
Disease: Edema of lower extremity
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Edema of the upper extremity
CUI: C0522035
Disease: Edema of the upper extremity
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Erythema
CUI: C0041834
Disease: Erythema
8 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Irregular hyperpigmentation
CUI: C1860236
Disease: Irregular hyperpigmentation
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Leg Length Inequality
CUI: C0023221
Disease: Leg Length Inequality
6 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Macular hyperpigmented dermopathy
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
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