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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0.972 | 36 | 2007 | 2019 | |||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 0.971 | 35 | 2007 | 2019 | |||||||
|
0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.900 | 1.000 | 30 | 1995 | 2018 | ||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 26 | 1985 | 2017 | ||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins |
|
0.700 | 1.000 | 26 | 1985 | 2017 | ||||||||||
|
1.000 | 10 | 121517425 | splice acceptor variant | CTCAATCTCTTTGTCCGTGGTGTTAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGGCTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATTCCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 26 | 1985 | 2017 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 25 | 2007 | 2018 | ||||||||
|
0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 0.960 | 25 | 1995 | 2018 | |||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 24 | 2007 | 2018 | ||||||||
|
0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.820 | 1.000 | 19 | 1994 | 2007 | ||||||||
|
0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.820 | 1.000 | 19 | 1994 | 2015 | ||||||||
|
1.000 | 0.080 | 10 | 121517420 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 18 | 1994 | 2016 | ||||||||
|
0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.830 | 1.000 | 18 | 1994 | 2014 | ||||||||
|
0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 17 | 1994 | 2012 | ||||||||
|
0.851 | 0.120 | 10 | 121517377 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.820 | 1.000 | 17 | 1994 | 2007 | ||||||||
|
0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 17 | 1994 | 2007 | ||||||||
|
0.790 | 0.160 | 10 | 121517351 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.710 | 1.000 | 17 | 1994 | 2014 | ||||||||
|
0.851 | 0.080 | 10 | 121520119 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 17 | 1994 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 121517385 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 16 | 1994 | 2007 | ||||||||
|
0.851 | 0.080 | 10 | 121517342 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 16 | 1994 | 2007 | ||||||||
|
0.882 | 0.080 | 10 | 121517372 | missense variant | G/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 16 | 1994 | 2007 | |||||||
|
0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 16 | 1994 | 2007 | ||||||||
|
0.925 | 0.080 | 10 | 121517382 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 16 | 1994 | 2007 |