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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 14 | 91887283 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2002 | 2010 | ||||||||
|
1.000 | 14 | 91937148 | missense variant | C/G | snv | 1.2E-05 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2004 | 2010 | ||||||||
|
1.000 | 14 | 91937114 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 |
|
0.800 | 1.000 | 4 | 2004 | 2010 | ||||||||
|
1.000 | 14 | 91937067 | missense variant | G/A;C | snv | 8.0E-06 |
|
0.800 | 1.000 | 4 | 2004 | 2010 | |||||||||
|
1.000 | 14 | 91877585 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 |
|
0.800 | 1.000 | 4 | 2004 | 2010 | ||||||||
|
0.882 | 0.120 | 14 | 91870336 | missense variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2004 | 2010 | |||||||||
|
0.925 | 0.040 | 14 | 91891334 | missense variant | A/G | snv |
|
0.800 | 1.000 | 4 | 2004 | 2010 | |||||||||
|
1.000 | 14 | 91877621 | missense variant | G/A | snv | 7.6E-05 | 9.8E-05 |
|
0.800 | 1.000 | 4 | 2004 | 2010 | ||||||||
|
1.000 | 14 | 91937058 | missense variant | C/G;T | snv | 3.8E-04 |
|
0.800 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.925 | 0.120 | 14 | 91877555 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
0.851 | 0.120 | 14 | 91883017 | missense variant | C/T | snv | 2.6E-04 | 2.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2002 | 2010 | ||||||
|
0.851 | 0.120 | 14 | 91883017 | missense variant | C/T | snv | 2.6E-04 | 2.5E-04 |
|
0.700 | 1.000 | 6 | 2004 | 2013 | |||||||
|
14 | 91925128 | intron variant | ATCAA/- | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 91914328 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 14 | 91937183 | missense variant | G/A | snv | 1.8E-04 | 2.6E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 14 | 91887253 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 14 | 91936950 | missense variant | C/T | snv | 1.8E-03 | 1.9E-03 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 14 | 91891236 | missense variant | C/T | snv | 2.8E-04 | 1.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 14 | 91877501 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 14 | 91877555 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 14 | 91887253 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.040 | 1.000 | 4 | 2002 | 2010 | ||||||||
|
0.882 | 0.120 | 14 | 91887283 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2006 | 2010 | ||||||||
|
0.882 | 0.120 | 14 | 91870336 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||||||
|
0.851 | 0.120 | 14 | 91883017 | missense variant | C/T | snv | 2.6E-04 | 2.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||||
|
0.882 | 0.120 | 14 | 91870336 | missense variant | C/T | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |