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 | 1 | 196912470 | intron variant | G/C;T | snv |
|
Eye Diseases | 0.710 | 1.000 | 4 | 2010 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 196898103 | intron variant | T/C | snv | 0.28 |
|
Eye Diseases | 0.710 | 1.000 | 3 | 2011 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 196916214 | intron variant | C/G | snv | 0.21 |
|
Eye Diseases | 0.700 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 196918327 | missense variant | G/A | snv | 8.0E-02 | 7.4E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 196918327 | missense variant | G/A | snv | 8.0E-02 | 7.4E-02 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.040 | 1 | 196916555 | non coding transcript exon variant | T/C | snv | 0.21 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 196908559 | intron variant | C/G | snv | 0.22 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 196908559 | intron variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 196910875 | intron variant | C/A;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 196918051 | intron variant | T/G | snv | 0.40 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 1 | 196917640 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 1 | 196917640 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 1 | 196917640 | intron variant | T/A;C | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 196917640 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.040 | 1 | 196898103 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 196891667 | intron variant | A/G | snv | 0.22 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 196891667 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 196891605 | intron variant | G/A | snv | 0.22 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 196913306 | intron variant | T/C | snv | 0.22 |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 1 | 196913373 | intron variant | G/A;T | snv |
|
Eye Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 196899970 | intron variant | T/G | snv | 1.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 196902603 | missense variant | G/A | snv | 4.2E-04 | 1.8E-03 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |