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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 51046270 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 18 | 51058364 | missense variant | G/A | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.360 | 18 | 51078307 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.360 | 18 | 51078307 | missense variant | T/C | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.882 | 0.240 | 18 | 51076662 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
18 | 51084461 | 3 prime UTR variant | A/C;G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 18 | 51051412 | 3 prime UTR variant | G/A;C | snv | 0.37 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 18 | 51058421 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 18 | 51047229 | synonymous variant | A/C | snv | 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 18 | 51058424 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 18 | 51069023 | intron variant | C/G | snv | 0.55 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.400 | 18 | 51078294 | missense variant | C/T | snv | 8.0E-06 |
|
0.700 | 1.000 | 13 | 2004 | 2016 | ||||||||
|
0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 12 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 18 | 51078354 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 11 | 2000 | 2013 | ||||||||
|
0.851 | 0.480 | 18 | 51067121 | frameshift variant | CAGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 1998 | 2017 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 1996 | 2016 | ||||||||
|
0.742 | 0.520 | 18 | 51065549 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 1998 | 2016 | ||||||||
|
0.776 | 0.280 | 18 | 51065548 | missense variant | C/A;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 8 | 1996 | 2016 | ||||||||
|
1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||
|
18 | 51065532 | missense variant | C/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
18 | 51078417 | missense variant | G/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 | ||||||||||
|
0.807 | 0.480 | 18 | 51078306 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 2011 | 2016 | |||||||
|
1.000 | 0.120 | 18 | 51065456 | missense variant | A/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 7 | 1996 | 2007 |