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 | 19 | 12665743 | missense variant | G/A;T | snv | 1.6E-05; 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 12665505 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 12664824 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | ||||||
|
1.000 | 0.080 | 19 | 12665801 | missense variant | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 12664947 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 12664823 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 12664817 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 7 | 1997 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 12665370 | stop gained | G/A;T | snv | 1.6E-05; 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||||
|
19 | 12665022 | intron variant | G/A | snv | 8.7E-03 | 9.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
19 | 12671609 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
19 | 12671609 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 19 | 12664860 | stop gained | G/A | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.080 | 19 | 12665734 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
19 | 12669525 | 3 prime UTR variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 19 | 12665366 | frameshift variant | T/- | del | 4.1E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 19 | 12665493 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 19 | 12665511 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 12666541 | splice donor variant | A/G;T | snv | 5.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 12664976 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 12666648 | frameshift variant | -/A | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 12666608 | frameshift variant | -/C | delins | 6.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 19 | 12666542 | splice donor variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 12664832 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 9 | 1997 | 2015 | ||||||||
|
1.000 | 0.080 | 19 | 12665750 | missense variant | T/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.800 | 1.000 | 7 | 1997 | 2012 |