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 | 0.080 | 10 | 121479954 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
0.925 | 0.080 | 10 | 121479954 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||
|
10 | 121479973 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 121479995 | missense variant | G/A;C | snv | 9.1E-05; 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
10 | 121480007 | stop gained | G/C | snv | 7.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.080 | 10 | 121485399 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 121485414 | missense variant | C/T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.280 | 10 | 121487390 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
10 | 121487415 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 10 | 121488002 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 10 | 121488003 | missense variant | T/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
10 | 121488005 | missense variant | T/C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
1.000 | 0.120 | 10 | 121488017 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.120 | 10 | 121488017 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 10 | 121488017 | missense variant | T/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 121488028 | missense variant | T/C | snv | 1.2E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.280 | 10 | 121488028 | inframe deletion | TCT/- | del |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.800 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.360 | 10 | 121488035 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |