BMPR1A, bone morphogenetic protein receptor type 1A, 657
N. diseases: 203; N. variants: 102
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 86930893 | 3 prime UTR variant | T/C | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 10 | 86923631 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 1993 | 1993 | ||||||||
|
1.000 | 0.120 | 10 | 86923631 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
10 | 86923600 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 86923592 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 10 | 86923504 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 86923493 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 10 | 86923490 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
10 | 86923471 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
1.000 | 0.120 | 10 | 86923442 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2001 | 2003 | ||||||||
|
10 | 86923434 | stop gained | C/A;T | snv | 3.2E-05 | 4.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 86923407 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 86923393 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 86923393 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
10 | 86922798 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.120 | 10 | 86921680 | missense variant | C/T | snv | 6.8E-04 | 8.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 10 | 86921667 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
10 | 86921596 | frameshift variant | -/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.120 | 10 | 86921574 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 86921574 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 10 | 86919430 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 8 | 2001 | 2017 | ||||||||
|
10 | 86919404 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 10 | 86919384 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2007 | |||||||
|
1.000 | 0.120 | 10 | 86919384 | stop gained | C/G;T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
10 | 86919368 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |