PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1, 5048
N. diseases: 219; N. variants: 103
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 17 | 2674088 | frameshift variant | GA/- | delins |
|
0.700 | 1.000 | 6 | 1997 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 2674088 | frameshift variant | GA/- | delins |
|
0.700 | 1.000 | 6 | 1997 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 3 | 1999 | 2003 | |||||||||
|
0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 2666053 | frameshift variant | A/-;AA | delins |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 2670268 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 1999 | 2003 | ||||||||
|
0.925 | 0.080 | 17 | 2674110 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 1999 | 2003 | |||||||
|
0.925 | 0.080 | 17 | 2674110 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.925 | 0.080 | 17 | 2670268 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 2638310 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 2638310 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 2674088 | frameshift variant | GA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 2670247 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 7 | 1997 | 2004 | ||||||||
|
1.000 | 0.080 | 17 | 2670209 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2004 | ||||||||
|
1.000 | 0.080 | 17 | 2676553 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2004 | ||||||||
|
1.000 | 0.080 | 17 | 2665431 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2004 | ||||||||
|
1.000 | 0.080 | 17 | 2674218 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.800 | 1.000 | 5 | 1997 | 2004 | ||||||||
|
1.000 | 0.080 | 17 | 2674206 | missense variant | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 1997 | 2004 | |||||||
|
1.000 | 0.080 | 17 | 2670286 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
1.000 | 0.040 | 17 | 2671527 | intron variant | G/A;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 2671527 | intron variant | G/A;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 |