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 | 0.080 | 19 | 41342229 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41342215 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 41352804 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 19 | 41331066 | missense variant | A/C;G;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.320 | 19 | 41354927 | missense variant | T/G | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 19 | 41352717 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 19 | 41352912 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 19 | 41353006 | inframe insertion | -/AGCAGCAGC | delins | 7.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 41342218 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 19 | 41355008 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.050 | 1.000 | 5 | 2000 | 2013 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.080 | 19 | 41342209 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.020 | 1.000 | 2 | 2002 | 2013 |