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 | 0.040 | 6 | 10409973 | frameshift variant | -/CCGTGCA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 6 | 10406842 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 10404559 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.120 | 6 | 10404631 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.160 | 6 | 10400802 | intron variant | AGA/- | delins | 6.8E-02 | 6.9E-02 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1.000 | 0.040 | 6 | 10400584 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 6 | 10404562 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 6 | 1995 | 2015 | |||||||||
|
0.925 | 0.040 | 6 | 10404562 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||||||
|
0.925 | 0.040 | 6 | 10404511 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 6 | 1995 | 2015 | |||||||||
|
0.925 | 0.040 | 6 | 10404511 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||||||
|
0.925 | 0.040 | 6 | 10404562 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 6 | 10404511 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 10402590 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 6 | 10404523 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 10404575 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 6 | 10400587 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 6 | 10402608 | missense variant | G/A | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |