EDA, ectodysplasin A, 1896
N. diseases: 150; N. variants: 83
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | X | 70035434 | missense variant | G/A;C;T | snv | 9.2E-04; 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 7 | 2006 | 2016 | |||||||
|
0.925 | 0.120 | X | 70033469 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 1.000 | 7 | 2006 | 2016 | ||||||||
|
1.000 | 0.080 | X | 70030503 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 1.000 | 7 | 2006 | 2016 | ||||||||
|
0.925 | 0.120 | X | 69616489 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | X | 69957093 | missense variant | C/T | snv | 1.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | X | 69616501 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 0 | |||||||||||
|
0.925 | 0.120 | X | 70035505 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | X | 70035446 | missense variant | C/T | snv | 5.5E-06 | 9.6E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.800 | 0 | |||||||||
|
0.925 | 0.080 | X | 70035389 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 0 |