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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypodontia
|
48 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.810 | 1.000 | 2 | 2018 | 2019 | ||||
TOOTH AGENESIS, SELECTIVE, 4 (disorder)
|
24 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.800 | 1.000 | 8 | 2011 | 2017 | ||||
Odontoonychodermal dysplasia
|
15 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.800 | 1.000 | 5 | 2007 | 2017 | ||||
Oligodontia
|
34 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.710 | 1.000 | 2 | 2018 | 2019 | ||||
Central corneal thickness
|
61 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
Acne Vulgaris
|
37 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Dental caries
|
126 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
Developmental absence of tooth
|
15 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Hypodontia Oligodontia with Orofacial Cleft
|
8 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Reduced number of teeth
|
11 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
Tooth Agenesis, Familial
|
13 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
TOOTH AGENESIS, SELECTIVE, 9
|
11 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Tooth Agenesis, Selective, With Orofacial Cleft
|
8 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Tooth development and eruption disorder
|
8 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
Alopecia
|
375 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 0 | |||||||
Anhydrotic Ectodermal Dysplasias
|
2 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 0 | |||||||
Diminished sweating
|
7 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 0 | |||||||
Agenesis
|
44 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
Keratoconus
|
83 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |