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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 10 | 2002 | 2016 | ||||||||
|
0.851 | 0.120 | 1 | 247424765 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2001 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 247425329 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2001 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 247424227 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2001 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 247425167 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2002 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2002 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 247424375 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 7 | 2002 | 2014 | ||||||||
|
0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.820 | 1.000 | 7 | 2001 | 2016 | ||||||||
|
0.851 | 0.200 | 1 | 247424492 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 7 | 2002 | 2014 | ||||||||
|
0.851 | 0.120 | 1 | 247424765 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.810 | 1.000 | 6 | 2001 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 247424504 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2001 | 2014 | ||||||||
|
0.851 | 0.080 | 1 | 247424227 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.820 | 1.000 | 5 | 2001 | 2014 | ||||||||
|
1.000 | 0.080 | 1 | 247425154 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 5 | 2001 | 2014 | ||||||||
|
0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 5 | 2002 | 2014 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
1 | 247442297 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2016 | |||||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
0.020 | 1.000 | 2 | 2010 | 2012 | |||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.040 | 1 | 247432548 | intron variant | C/T | snv | 0.11 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||||
|
1 | 247438293 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2009 | 2011 |