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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 17 | 56594774 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 17 | 56594774 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.080 | 17 | 56594326 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 56594838 | missense variant | G/C | snv |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 56594551 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 17 | 56594838 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 17 | 56594822 | missense variant | T/C | snv |
|
Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 17 | 56594837 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 17 | 56594326 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.710 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 56594888 | missense variant | A/G | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
1.000 | 0.040 | 17 | 56594891 | missense variant | C/T | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
1.000 | 0.040 | 17 | 56594788 | missense variant | G/T | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
0.925 | 0.080 | 17 | 56594327 | missense variant | C/G;T | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
0.882 | 0.080 | 17 | 56594774 | missense variant | G/A | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
1.000 | 0.040 | 17 | 56594887 | missense variant | T/C;G | snv |
|
Musculoskeletal Diseases | 0.800 | 1.000 | 4 | 1999 | 2005 | ||||||||
|
1.000 | 0.080 | 17 | 56594872 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 1999 | 2010 | ||||||||
|
1.000 | 0.080 | 17 | 56594919 | missense variant | C/G;T | snv | 1.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 2 | 1999 | 2010 | |||||||
|
0.925 | 0.080 | 17 | 56594888 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 17 | 56594834 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.800 | 1.000 | 1 | 2002 | 2002 |