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 | 2 | 215428331 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 215430725 | missense variant | G/A;C | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 2 | 215361578 | missense variant | C/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 2 | 215428246 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 215428306 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 2 | 215433372 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 215434713 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 215430762 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 215431874 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 215433371 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 215406406 | missense variant | C/T | snv | 8.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 2 | 215376610 | missense variant | C/G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 2 | 215386884 | inframe deletion | GAG/- | delins |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.030 | 1.000 | 3 | 2013 | 2019 | |||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
Neoplasms; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2006 | 2011 | |||||||
|
0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2007 | 2011 | ||||||||
|
1.000 | 0.080 | 2 | 215408367 | missense variant | T/A;C | snv | 2.2E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 1997 | 2012 | |||||||
|
1.000 | 0.080 | 2 | 215399334 | missense variant | T/C | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 1997 | 2012 | ||||||
|
0.925 | 0.160 | 2 | 215430725 | missense variant | G/A;C | snv | 1.2E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.120 | 2 | 215408182 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 215434906 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 |
|
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |