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 | 0.040 | X | 31147274 | splice donor variant | C/T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | X | 31147289 | stop gained | G/A;T | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2011 | |||||||
|
1.000 | 0.120 | X | 31147347 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 31169486 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | X | 31169492 | stop gained | C/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.040 | X | 31169542 | frameshift variant | A/- | del |
|
Cardiovascular Diseases | 0.700 | 1.000 | 4 | 1992 | 2004 | ||||||||
|
0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 31169543 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 31169584 | stop gained | A/C | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.120 | X | 31169589 | frameshift variant | -/TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 31172375 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | X | 31172385 | missense variant | A/C | snv |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.120 | X | 31172385 | missense variant | A/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.120 | X | 31172385 | missense variant | A/C | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
X | 31172390 | missense variant | T/C | snv | 5.5E-06 | 9.4E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Eye Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.790 | 0.200 | X | 31177947 | stop gained | C/T | snv | 2.2E-05 | 2.9E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | X | 31177956 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 31177964 | splice acceptor variant | ACGGGACTGCAAAACAAAAAATGAGGTGGTGAAGGAGACACACGCAAACTCAGCCGCAAAAAAATTTACTGAAAGGTCAAAATAAATAAAATCCAGCCAATTAAGTATGAACCATGGAAAGCAATAGCCAAACCAAGGTGTAAAGTGAATTAAAAGAAAAACACACAGTTGTGTGACTGCCA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2006 | 2014 |