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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 10 | 86857014 | intron variant | G/A | snv | 0.14 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 10 | 86842729 | intron variant | C/G | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
10 | 86922798 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
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 | |||||||
|
0.925 | 0.120 | 10 | 86919316 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.080 | 10 | 86881744 | intron variant | A/G;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 10 | 86890109 | frameshift variant | -/A | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 2001 | 2013 | ||||||||
|
1.000 | 0.120 | 10 | 86899830 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 6 | 1997 | 2013 | ||||||||
|
10 | 86890164 | missense variant | C/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2004 | 2013 | |||||||||
|
10 | 86892141 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2002 | 2013 | ||||||||||
|
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 | ||||||||
|
1.000 | 0.120 | 10 | 86756638 | splice donor variant | CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2010 | 2012 | ||||||||
|
0.925 | 0.120 | 10 | 86919316 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2001 | 2013 | ||||||||
|
1.000 | 0.120 | 10 | 86917140 | stop gained | C/A;T | snv | 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||||
|
10 | 86892158 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2002 | 2009 | ||||||||||
|
1.000 | 0.120 | 10 | 86919236 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
1.000 | 0.120 | 10 | 86876060 | frameshift variant | TGTT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2013 | ||||||||
|
10 | 86919263 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2004 | ||||||||||
|
1.000 | 0.120 | 10 | 86892126 | splice acceptor variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
1.000 | 0.120 | 10 | 86919170 | splice acceptor variant | AGGTT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
1.000 | 0.120 | 10 | 86917275 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2001 | 2009 | ||||||||
|
1.000 | 0.120 | 10 | 86917140 | stop gained | C/A;T | snv | 3.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2002 | 2013 | |||||||
|
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 | 86876019 | start lost | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||||||
|
10 | 86930893 | 3 prime UTR variant | T/C | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |