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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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)
|
13 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.730 | 1.000 | 3 | 2016 | 2019 | ||||||
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
|
8 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||||
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
|
73 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Cutaneous vascular malformation
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Deformity
|
26 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
Epilepsy
|
339 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Glaucoma
|
198 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
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
|
9 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
Pyogenic granuloma
|
4 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
Pyogenic granuloma of skin
|
3 | 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 | |||||||||
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 | |||||||||
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 | |||||||||
Anisometropia
|
1 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Astigmatism
|
45 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Blepharitis
|
3 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Blue sclera
|
13 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Clinodactyly of the 5th finger
|
39 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital abnormality of vein
|
7 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 |