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 | 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 | |||||||||||
|
1.000 | 0.120 | 6 | 160716663 | inframe deletion | GAA/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 6 | 160741417 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 6 | 160713018 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 6 | 160718730 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||||
|
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 | ||||||||
|
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 |
|
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 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||||||
|
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 | ||||||||
|
1.000 | 0.120 | 6 | 160752240 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 8 | 1982 | 1999 | ||||||
|
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 | |||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.882 | 0.080 | 6 | 160718313 | synonymous variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.882 | 0.080 | 6 | 160718313 | synonymous variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
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 | |||||||
|
0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
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 | |||||||
|
0.925 | 0.160 | 6 | 160706469 | missense variant | A/G | snv | 3.0E-03 | 2.8E-03 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.882 | 0.080 | 6 | 160718313 | synonymous variant | T/C | snv | 1.2E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.925 | 0.120 | 6 | 160714828 | synonymous variant | C/T | snv | 6.0E-04 | 2.2E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 |