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 | 0.120 | X | 32411754 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
X | 31773986 | missense variant | T/C | snv | 1.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
X | 31773986 | missense variant | T/C | snv | 1.9E-05 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1992 | 2015 | ||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | X | 31178784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | X | 31180437 | missense variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | X | 31182784 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 8 | 1993 | 2009 | ||||||||
|
0.925 | 0.160 | X | 31178751 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | X | 31206663 | stop gained | G/A | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 9 | 1998 | 2010 | ||||||||
|
1.000 | 0.120 | X | 32484946 | stop gained | G/A;T | snv | 2.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 1997 | 2010 | |||||||
|
X | 32287680 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||||
|
1.000 | 0.120 | X | 32545158 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | X | 32343221 | frameshift variant | C/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
0.700 | 0 | ||||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32849737 | frameshift variant | C/- | delins |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
X | 32343174 | stop gained | A/C | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 |