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 | 6 | 160722431 | missense variant | G/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 9 | 1982 | 2003 | |||||||
|
1.000 | 0.120 | 6 | 160736976 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1982 | 1999 | ||||||||
|
0.925 | 0.120 | 6 | 160716680 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1982 | 1999 | ||||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Cardiovascular Diseases | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Stomatognathic Diseases | 0.020 | 0.500 | 2 | 2015 | 2017 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Stomatognathic Diseases | 0.020 | 0.500 | 2 | 2015 | 2017 | |||||||
|
0.925 | 0.120 | 6 | 160716680 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||||
|
1.000 | 0.120 | 6 | 160741375 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.080 | 6 | 160722576 | intron variant | T/C;G | snv | 0.21 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.160 | 6 | 160718432 | missense variant | G/C | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 6 | 160731092 | missense variant | A/C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 6 | 160706454 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.040 | 6 | 160739148 | missense variant | A/G | snv | 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 160718329 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 6 | 160706424 | missense variant | G/A | snv | 8.0E-06 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.120 | 6 | 160738583 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 6 | 160731229 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 |