PIBF1, progesterone immunomodulatory binding factor 1, 10464
N. diseases: 59; N. variants: 8
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 13 | 72835359 | missense variant | G/A | snv | 1.5E-02 | 7.7E-03 |
|
0.800 | 0 | ||||||||||
|
1.000 | 13 | 72965350 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.925 | 0.160 | 13 | 72835359 | missense variant | G/A | snv | 1.5E-02 | 7.7E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
13 | 72993053 | intron variant | G/A | snv | 2.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 72985844 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 72985844 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.160 | 13 | 72917105 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.240 | 13 | 72908550 | missense variant | A/G | snv | 5.8E-05 | 2.1E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.240 | 13 | 72908550 | missense variant | A/G | snv | 5.8E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 13 | 72893914 | stop gained | C/A;G;T | snv | 1.6E-05; 4.1E-06; 4.1E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 13 | 72965358 | missense variant | A/T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 13 | 72965358 | missense variant | A/T | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 13 | 72908550 | missense variant | A/G | snv | 5.8E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |