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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 45438040 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.820 | 1.000 | 20 | 1997 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 45432011 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.810 | 1.000 | 18 | 1997 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 45431963 | missense variant | T/C;G | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 18 | 1997 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 45438039 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 18 | 1997 | 2018 | ||||||||
|
0.925 | 0.120 | 6 | 45437964 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 18 | 1997 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 45431945 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 18 | 1997 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 45438020 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 18 | 1997 | 2018 | ||||||||
|
6 | 45554923 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
6 | 45330467 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 45554402 | intron variant | C/G;T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 45328602 | 5 prime UTR variant | A/G | snv | 7.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 45454462 | intron variant | C/G | snv | 7.7E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 6 | 45406446 | intron variant | A/G | snv | 0.35 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 6 | 45389962 | intron variant | A/C | snv | 0.63 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 45436037 | intron variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.120 | 6 | 45531876 | intron variant | -/T | delins |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 45431915 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
6 | 45602126 | intron variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 45655011 | intron variant | T/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 45512277 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 45437964 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 45547304 | stop lost | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 6 | 45432008 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 6 | 45422750 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 6 | 45431962 | missense variant | A/G | snv | 1.1E-04 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |