BEST1, bestrophin 1, 7439
N. diseases: 292; N. variants: 152
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 | 11 | 61959511 | inframe deletion | TCA/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 61951893 | stop gained | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 61959518 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61959540 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61955195 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61956897 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61951892 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61959519 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 61959530 | missense variant | G/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 61957430 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61962622 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61955124 | frameshift variant | -/CA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 61951895 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2012 | ||||||
|
0.851 | 0.080 | 11 | 61957402 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 20 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61955723 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 20 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61957429 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 20 | 1998 | 2019 | ||||||||
|
0.882 | 0.080 | 11 | 61955892 | missense variant | G/A | snv | 5.2E-04 | 3.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 19 | 1998 | 2012 | ||||||
|
1.000 | 0.080 | 11 | 61951832 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.800 | 1.000 | 19 | 1998 | 2012 | ||||||||
|
1.000 | 0.080 | 11 | 61951879 | missense variant | C/A;G;T | snv | 3.2E-05; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 19 | 1998 | 2012 | |||||||
|
0.925 | 0.080 | 11 | 61955742 | missense variant | C/A;T | snv | 6.9E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 19 | 1998 | 2018 | |||||||
|
0.882 | 0.080 | 11 | 61957403 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 19 | 1998 | 2015 | ||||||
|
0.925 | 0.080 | 11 | 61959528 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 19 | 1998 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 61959544 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 19 | 1998 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 61959548 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.710 | 1.000 | 19 | 1998 | 2015 | ||||||||
|
0.925 | 0.080 | 11 | 61955749 | stop gained | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.810 | 1.000 | 19 | 1998 | 2017 |