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.
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
Abnormal vena cava morphology
CUI: C4476886
Disease: Abnormal vena cava morphology
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormal venous morphology
CUI: C0241665
Disease: Abnormal venous morphology
1 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Anisometropia
CUI: C0003081
Disease: Anisometropia
1 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
Macular hyperpigmented dermopathy
CUI: C4024885
Disease: Macular hyperpigmented dermopathy
1 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
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
Skin Ulcer
CUI: C0037299
Disease: Skin Ulcer
1 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
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
Abnormality of neck blood vessel
CUI: C4073245
Disease: Abnormality of neck blood vessel
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Abnormality of the vasculature
CUI: C0241657
Disease: Abnormality of the vasculature
2 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
Congenital hemihypertrophy
CUI: C0332890
Disease: Congenital hemihypertrophy
2 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
Irregular hyperpigmentation
CUI: C1860236
Disease: Irregular hyperpigmentation
2 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
Pyogenic granuloma of skin
CUI: C0263218
Disease: Pyogenic granuloma of skin
3 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2016 2016
Blepharitis
CUI: C0005741
Disease: Blepharitis
3 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
Poor wound healing
CUI: C1851789
Disease: Poor wound healing
3 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
Pyogenic granuloma
CUI: C0085653
Disease: Pyogenic granuloma
4 0.667 0.400 9 77797577 missense variant C/T snv 0.010 1.000 1 2016 2016
Abnormal color vision
CUI: C0234629
Disease: Abnormal color vision
5 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0