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 | 0.080 | 16 | 67943207 | missense variant | C/T | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 15 | 1990 | 2006 | |||||||
|
1.000 | 0.080 | 16 | 67944001 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 1992 | 2011 | ||||||||
|
16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 67943479 | 5 prime UTR variant | T/C | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 16 | 67951803 | intron variant | C/A;T | snv | 0.15 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
16 | 67959740 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
16 | 67964017 | missense variant | T/C | snv | 0.15 | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 16 | 67944067 | missense variant | G/A | snv | 1.6E-04 | 7.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
16 | 67955620 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.080 | 16 | 67943143 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 16 | 67968562 | synonymous variant | C/T | snv | 1.8E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.080 | 16 | 67943158 | missense variant | A/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 67943992 | missense variant | G/A | snv | 2.6E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 |