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 | 0.120 | 2 | 215376612 | missense variant | A/T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 2 | 215375685 | missense variant | A/C;G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.120 | 2 | 215406306 | missense variant | T/C | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 2 | 215428246 | missense variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 215428306 | missense variant | A/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.200 | 2 | 215433372 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 2 | 215434713 | missense variant | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries | 0.800 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
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 | ||||||
|
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 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 215435462 | intron variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 215435462 | intron variant | C/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 215435462 | intron variant | C/T | snv | 0.79 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 2 | 215435759 | missense variant | T/A | snv | 0.76 | 0.79 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 215426636 | intron variant | C/T | snv | 0.24 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 215370323 | missense variant | C/A;G;T | snv | 4.0E-06; 8.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
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 |