PEPD, peptidase D, 5184
N. diseases: 113; N. variants: 36
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 | 0.040 | 19 | 33387892 | missense variant | C/T | snv | 1.8E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 7 | 1990 | 2017 | ||||||
|
1.000 | 0.040 | 19 | 33401862 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 4 | 1990 | 2002 | |||||||
|
1.000 | 0.040 | 19 | 33464060 | missense variant | C/T | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 4 | 1990 | 2002 | |||||||
|
1.000 | 0.040 | 19 | 33401855 | missense variant | C/T | snv | 4.4E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 4 | 1990 | 2002 | ||||||
|
1.000 | 0.040 | 19 | 33413621 | inframe deletion | TAG/- | delins | 1.6E-04 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 2 | 2004 | 2013 | ||||||
|
1.000 | 0.040 | 19 | 33463032 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 19 | 33391344 | missense variant | A/C;G | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 19 | 33411697 | stop gained | G/A;C | snv | 1.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 19 | 33464006 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 33388000 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 19 | 33387465 | inframe deletion | CTC/- | delins | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 19 | 33463987 | stop gained | -/TCACGGTGGGCCT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 |