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 | 0.040 | 18 | 51041256 | intron variant | C/G | snv | 0.32 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
18 | 51046270 | intron variant | C/A;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.120 | 18 | 51047194 | frameshift variant | A/-;AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51047194 | frameshift variant | A/-;AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
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 | 51048696 | frameshift variant | AAGGA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
18 | 51048711 | frameshift variant | AT/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
18 | 51048733 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.160 | 18 | 51048738 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51048809 | frameshift variant | -/AT | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51048810 | frameshift variant | -/TGTCTGT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 51048824 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51048839 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2006 | 2007 | ||||||||
|
1.000 | 0.120 | 18 | 51048861 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51049296 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 18 | 51049296 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.120 | 18 | 51049307 | stop gained | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51049326 | splice donor variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2005 | 2012 | ||||||||
|
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 | 51054787 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51054842 | inframe deletion | GTCCACTGAAGG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51054859 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
1.000 | 0.120 | 18 | 51054859 | stop gained | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51054864 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 18 | 51054911 | stop gained | C/G;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms | 0.700 | 0 |