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
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Abnormal vena cava morphology
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Abnormal venous morphology
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Anisometropia
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Edema of the upper extremity
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Macular hyperpigmented dermopathy
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Nevus of Ota
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Pigmentation of the sclera
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Skin Ulcer
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Vascular tortuosity
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
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
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
Abnormality of neck blood vessel
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Abnormality of the vasculature
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital hemihypertrophy
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Edema of lower extremity
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Irregular hyperpigmentation
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Skin Diseases, Vascular
|
2 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Pyogenic granuloma of skin
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Blepharitis
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Meibomian Cyst
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Poor wound healing
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Prominent superficial veins
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Pyogenic granuloma
|
4 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Abnormal color vision
|
5 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 |