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 | 0.280 | 21 | 43168647 | upstream gene variant | T/A;G | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 21 | 43168609 | non coding transcript exon variant | G/C | snv | 4.1E-05 |
|
Infections; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 21 | 43168313 | intron variant | C/T | snv |
|
Infections; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.280 | 21 | 43168647 | upstream gene variant | T/A;G | snv |
|
Infections; Immune System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.040 | 21 | 43172105 | missense variant | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 21 | 43169244 | missense variant | C/T | snv | 8.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.040 | 21 | 43170619 | missense variant | G/A | snv |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2006 | 2019 | ||||||||
|
0.882 | 0.040 | 21 | 43172105 | missense variant | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 21 | 43172266 | missense variant | G/A | snv | 8.2E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.040 | 21 | 43169244 | missense variant | C/T | snv | 8.0E-06 |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 21 | 43169126 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
21 | 43173030 | downstream gene variant | A/G | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.882 | 0.040 | 21 | 43172105 | missense variant | G/A | snv |
|
Eye Diseases | 0.800 | 1.000 | 16 | 1998 | 2013 | ||||||||
|
0.851 | 0.040 | 21 | 43169133 | missense variant | C/T | snv | 4.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 12 | 1998 | 2013 | |||||||
|
0.790 | 0.200 | 21 | 43172104 | missense variant | C/A;T | snv |
|
Eye Diseases | 0.800 | 1.000 | 7 | 1998 | 2013 | ||||||||
|
0.882 | 0.040 | 21 | 43169244 | missense variant | C/T | snv | 8.0E-06 |
|
Eye Diseases | 0.800 | 1.000 | 7 | 1998 | 2013 | |||||||
|
0.925 | 0.200 | 21 | 43169259 | missense variant | C/T | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.200 | 21 | 43169160 | missense variant | C/A;T | snv | 4.0E-06 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 21 | 43169161 | missense variant | G/A | snv | 1.2E-05 |
|
Eye Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 21 | 43170619 | missense variant | G/A | snv |
|
Eye Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.200 | 21 | 43172104 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.200 | 21 | 43169160 | missense variant | C/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.925 | 0.200 | 21 | 43172168 | missense variant | G/C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 21 | 43169161 | missense variant | G/A | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.280 | 21 | 43168647 | upstream gene variant | T/A;G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |